inborn errors metabolism

Summary

Summary: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.

Top Publications

  1. ncbi Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication
    E P Treacy
    McGill University, Montreal Children s Hospital Research Institute, Montreal, Quebec H3H 1P3, Canada
    Hum Mol Genet 7:839-45. 1998
  2. ncbi Rhabdomyolysis in the military: recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency
    Jodi D Hoffman
    Division of Genetics, Tufts New England Medical Center, Boston, MA 02111, USA
    Mil Med 171:657-8. 2006
  3. ncbi Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort
    B R Akerman
    Montreal Children s Hospital, Montreal, Quebec, Canada
    Mol Genet Metab 68:24-31. 1999
  4. ncbi Trimethylaminuria and a human FMO3 mutation database
    Diana Hernandez
    Department of Biochemistry and Molecular Biology, University College London, London, UK
    Hum Mutat 22:209-13. 2003
  5. ncbi Mitochondrial fatty acid oxidation defects--remaining challenges
    Niels Gregersen
    Research Unit for Molecular Medicine, Institute of Clinical Medicine, The Faculty of Health Sciences, Aarhus University, Aarhus N, Denmark
    J Inherit Metab Dis 31:643-57. 2008
  6. ncbi A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria
    N Casals
    Unit of Biochemistry, School of Pharmacy, University of Barcelona, Spain
    J Lipid Res 38:2303-13. 1997
  7. ncbi Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants
    S Vijay
    Willink Biochemical Genetics Unit, Royal Manchester Childrens Hospital, UK
    J Inherit Metab Dis 29:627-30. 2006
  8. ncbi Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress
    Susan E Waisbren
    Children s Hospital Boston, Mass 02115, USA
    JAMA 290:2564-72. 2003
  9. ncbi Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications
    Andreas Schulze
    Division of Metabolic and Endocrine Diseases, Department of General Pediatrics, University Children s Hospital, Heidelberg, Germany
    Pediatrics 111:1399-406. 2003
  10. ncbi ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
    Rikke K J Olsen
    The Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark
    Brain 130:2045-54. 2007

Research Grants

Detail Information

Publications201 found, 100 shown here

  1. ncbi Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication
    E P Treacy
    McGill University, Montreal Children s Hospital Research Institute, Montreal, Quebec H3H 1P3, Canada
    Hum Mol Genet 7:839-45. 1998
    ..These findings illustrate the critical role played by human FMO3 in the metabolism of xenobiotic substrates and endogenous amines...
  2. ncbi Rhabdomyolysis in the military: recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency
    Jodi D Hoffman
    Division of Genetics, Tufts New England Medical Center, Boston, MA 02111, USA
    Mil Med 171:657-8. 2006
    ....
  3. ncbi Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort
    B R Akerman
    Montreal Children s Hospital, Montreal, Quebec, Canada
    Mol Genet Metab 68:24-31. 1999
    ..On the basis of this study we conclude that one common mutation and an increasing number of private mutations in individuals of different ethnic origins cause TMAuria in this cohort...
  4. ncbi Trimethylaminuria and a human FMO3 mutation database
    Diana Hernandez
    Department of Biochemistry and Molecular Biology, University College London, London, UK
    Hum Mutat 22:209-13. 2003
    ..The database currently contains 24 entries and is accessible on the World Wide Web via the URL http://human-fmo3.biochem.ucl.ac.uk/Human_FMO3. Additional entries can be submitted via the curator of the database or via a web-based form...
  5. ncbi Mitochondrial fatty acid oxidation defects--remaining challenges
    Niels Gregersen
    Research Unit for Molecular Medicine, Institute of Clinical Medicine, The Faculty of Health Sciences, Aarhus University, Aarhus N, Denmark
    J Inherit Metab Dis 31:643-57. 2008
    ..With SCAD deficiency, the challenge is to elucidate whether ACADS gene variations are disease-associated, especially when combined with other genetic/cellular/environmental factors, which may act synergistically...
  6. ncbi A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria
    N Casals
    Unit of Biochemistry, School of Pharmacy, University of Barcelona, Spain
    J Lipid Res 38:2303-13. 1997
    ..We suggest that this deletion may affect the interaction between the small nuclear ribonucleoproteins (snRNPs) and exon 6, and that, as a result, the abnormal splicing of the pre-mRNA produces two different aberrant transcripts...
  7. ncbi Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants
    S Vijay
    Willink Biochemical Genetics Unit, Royal Manchester Childrens Hospital, UK
    J Inherit Metab Dis 29:627-30. 2006
    ..All four mothers had been asymptomatic and none had a cardiomyopathy...
  8. ncbi Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress
    Susan E Waisbren
    Children s Hospital Boston, Mass 02115, USA
    JAMA 290:2564-72. 2003
    ..Questions about the effectiveness and risks of expanded newborn screening for biochemical genetic disorders need to be answered prior to its widespread acceptance as a state-mandated program...
  9. ncbi Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications
    Andreas Schulze
    Division of Metabolic and Endocrine Diseases, Department of General Pediatrics, University Children s Hospital, Heidelberg, Germany
    Pediatrics 111:1399-406. 2003
    ....
  10. ncbi ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
    Rikke K J Olsen
    The Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark
    Brain 130:2045-54. 2007
    ..This is the largest collection of riboflavin-responsive MADD patients ever reported, and the first demonstration of the molecular genetic basis for the disorder...
  11. ncbi Screening newborns for inborn errors of metabolism by tandem mass spectrometry
    Bridget Wilcken
    New South Wales Newborn Screening Programme, The Children s Hospital at Westmead, Sydney, NSW, Australia
    N Engl J Med 348:2304-12. 2003
    ..We examined the effect of the screening of newborns by tandem mass spectrometry on the rates of diagnosis of 31 disorders...
  12. ncbi ER storage diseases: a role for ERGIC-53 in controlling the formation and shape of Russell bodies
    Laura Mattioli
    MicroSCoBiO Research Center and IFOM Center of Cell Oncology and Ultrastructure, Department of Experimental Medicine, University of Genova, Italy
    J Cell Sci 119:2532-41. 2006
    ..Our findings identify a novel ERGIC-53 substrate, and indicate that interactions with light chains or ERGIC-53 seed muDeltaCH1 condensation in different stations of the early secretory pathway...
  13. ncbi Incidence of inborn errors of metabolism in British Columbia, 1969-1996
    D A Applegarth
    Department of Pediatrics, University of British Columbia
    Pediatrics 105:e10. 2000
    ..This population provides a relatively unique setting for collection of accurate and uniform incidence data because the diagnoses are all made through one laboratory in a population with universal access to government-funded medical care...
  14. ncbi Cystathionine beta-synthase mutations in homocystinuria
    J P Kraus
    Department of Pediatrics, University of Colorado School of Medicine, Denver 80262, USA
    Hum Mutat 13:362-75. 1999
    ..Mutations due to deaminations of methylcytosines represent 53% of all point substitutions in the coding region of the CBS gene...
  15. ncbi Inborn errors of metabolism in infancy and early childhood: an update
    Talkad S Raghuveer
    Division of Neonatology, University of Kansas Medical Center, Kansas City, Kansas 66160, USA
    Am Fam Physician 73:1981-90. 2006
    ..The early and specific diagnosis of inborn errors of metabolism and prompt initiation of appropriate therapy are still the best determinants of outcome for these patients...
  16. ncbi Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey
    Carlo Dionisi-Vici
    Department of Metabolism, Bambino Gesù Children s Hospital Scientific Institute IRCCS, Rome, Italy
    J Pediatr 140:321-7. 2002
    ..To estimate at the national level the overall and disease-specific incidence of inborn errors of metabolism not mass screened at birth...
  17. pmc Biomarkers, metabonomics, and drug development: can inborn errors of metabolism help in understanding drug toxicity?
    Subrahmanyam Vangala
    Global Preclinical Development, Johnson and Johnson Pharmaceutical Research and Development, Raritan, NJ, USA
    AAPS J 9:E284-97. 2007
    ....
  18. pmc The incidence of inherited metabolic disorders in the West Midlands, UK
    S Sanderson
    General Practice and Primary Care Research Unit, University of Cambridge, Cambridge, UK
    Arch Dis Child 91:896-9. 2006
    ..Inherited metabolic disorders (IMDs) are a heterogeneous group of genetic conditions mostly occurring in childhood. They are individually rare but collectively numerous, causing substantial morbidity and mortality...
  19. pmc An endoplasmic reticulum storage disease causing congenital goiter with hypothyroidism
    P S Kim
    Division of Endocrinology, Beth Israel Hospital, Harvard Medical School, Boston, Massachusetts 02215, USA
    J Cell Biol 133:517-27. 1996
    ..Based on the pattern of chaperone binding, different potential roles for individual chaperones are suggested in glycoprotein folding, retention, and degradation in this ER storage disease...
  20. ncbi Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism
    J Jaeken
    Neuropediatrics 15:165-9. 1984
    ..Postmortem examination of his brain showed leukodystrophy of the type seen in amino acidopathies such as phenylketonuria. This appears to be the first report of gamma-aminobutyric acid-transaminase deficiency...
  21. ncbi Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options
    Joan Benca
    Department of Anesthesiology, University of Wisconsin School of Medicine and Public Health, B6 319 Clinical Science Center, 600 Highland Ave, Madison, WI 53792 3272, USA
    Anesth Analg 109:1049-53. 2009
    ..For most conditions, evidence for a causal relationship with malignant hyperthermia susceptibility is weak. The review concludes with suggestions for clinical management when evidence for or against an association is uncertain...
  22. ncbi Pattern of inborn errors of metabolism in an Omani population of the Arabian Peninsula
    S N Joshi
    Division of Genetic and Metabolic Diseases, Sultan Qaboos University Hospital, Muscat, Oman
    Ann Trop Paediatr 22:93-6. 2002
    ..Our study shows the relevance of identifying patients with IEM in Oman and the need to establish screening for the conditions identified and provide effective management protocols...
  23. ncbi Inborn errors of metabolism: the flux from Mendelian to complex diseases
    Brendan Lanpher
    Department of Molecular and Human Genetics, Baylor College of Medicine One Baylor Plaza, Houston, Texas 77030, USA
    Nat Rev Genet 7:449-60. 2006
    ..Ultimately, this integration will lead to new diagnostic and therapeutic approaches that are focused on the manipulation of these pathways...
  24. ncbi Long term follow-up of patients with inborn errors of metabolism detected by the newborn screening program in Japan
    Kikumaro Aoki
    Kagawa Nutrition University, Saitama, Japan
    Southeast Asian J Trop Med Public Health 34:19-23. 2003
    ..Accumulated data for PKU show that IQ is inversely related to blood phenylalanine level and stricter dietary control guidelines have resulted. We now have a number of adolescents with PKU and long-term follow-up data are being obtained...
  25. ncbi Regulation of the mitochondrial ATP-synthase in health and disease
    Anibh M Das
    Department of Pediatrics, Hannover Medical School, Carl Neuberg Strasse 1, Hannover D 30625, Germany
    Mol Genet Metab 79:71-82. 2003
    ..This lack of energy may lead to 'slow onset' excitotoxicity and finally cell death. Cells can be rescued by adding creatine to the incubation medium. In D-2-hydroxyglutaric aciduria, inhibition of the ATP-synthase has been observed...
  26. ncbi Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria
    Guido F Laube
    Nephrourology Unit, Institute of Child Health and Great Ormond Street Hospital, London, UK
    Pediatr Nephrol 18:712-3. 2003
    ..The presence of nephrocalcinosis and medullary cysts in patients with 3-methylglutaconic aciduria adds to the heterogeneous clinical presentation of this group of disorders...
  27. ncbi Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency
    Pascal Laforet
    Centre de Référence de Pathologie Neuromusculaire Paris Est, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Paris, France
    Neuromuscul Disord 19:324-9. 2009
    ..Measurement of fasting blood acylcarnitines by tandem mass spectrometry allows accurate biochemical diagnosis and should therefore be performed in all patients presenting with unexplained muscle exercise intolerance or rhabdomyolysis...
  28. ncbi VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis
    A Boneh
    Metabolic Service and Newborn Screening Laboratory, Genetic Health Services Victoria, Melbourne, Australia
    Mol Genet Metab 88:166-70. 2006
    ..In view of the emerging genotype-phenotype correlation in this disorder, the information derived from mutational analysis can be helpful in designing the appropriate follow-up and therapeutic regime for these patients...
  29. ncbi CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency
    Paul J Isackson
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, SUNY at Buffalo, 100 High Street, Buffalo, NY 14203, USA
    Mol Genet Metab 94:422-7. 2008
    ..In addition, based on currently available structural, biochemical and clinical data, we have classified all 64 known disease-causing mutations into groups with different predicted phenotypes depending on their CPT2 allelic counterparts...
  30. ncbi 3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method
    R J Wanders
    Department of Pediatrics, University Hospital Amsterdam, The Netherlands
    Clin Chim Acta 171:95-101. 1988
    ..The results obtained suggest that the large variation in the values reported in literature for the activity of HMG-CoA lyase in human skin fibroblasts is due to the fact that the enzyme shows little activity at pH values below 8...
  31. ncbi Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome
    C T Dolphin
    Department of Biochemistry, Queen Mary and Westfield College, University of London, UK
    Nat Genet 17:491-4. 1997
    ..Our results indicate that defects in FMO3 underlie fish-odour syndrome and that the Pro 153-->Leu 153 mutation described here is a cause of this distressing condition...
  32. ncbi Development, validation and application of tandem mass spectrometry for screening of inborn metabolic disorders in Kuwaiti infants
    Mohammed Abdel-Hamid
    Department of Pharmaceutical Chemistry, Faculty of Pharmacy, Kuwait University, Safat, Kuwait
    Med Princ Pract 16:215-21. 2007
    ....
  33. ncbi Newborn screening for metabolic disorders
    Deborah Marsden
    Division of Genetics, Children s Hospital Boston, MA 02115, USA
    J Pediatr 148:577-584. 2006
  34. ncbi Stop codon mutations in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population
    Hiroshi Yamazaki
    Laboratory of Drug Metabolism and Pharmacokinetics, Showa Pharmaceutical University, Machida, Tokyo 194 8543, Japan
    Mol Genet Metab 90:58-63. 2007
    ..The results suggest that individuals homozygous for either of the nonsense mutations, Arg500Stop and/or Cys197Stop alleles, in the FMO3 gene can possess abnormal TMA N-oxygenation...
  35. ncbi Effects of the dietary supplements, activated charcoal and copper chlorophyllin, on urinary excretion of trimethylamine in Japanese trimethylaminuria patients
    Hiroshi Yamazaki
    Laboratory of Drug Metabolism, Graduate School of Pharmaceutical Sciences, Hokkaido University, N12W6, Kita ku, Sapporo 060 0812, Japan
    Life Sci 74:2739-47. 2004
    ..several weeks) than those observed for activated charcoal. The results suggest that the daily intake of charcoal and/or copper chlorophyllin may be of significant use in improving the quality of life of individuals suffering from TMAU...
  36. ncbi Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report
    L S Han
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai, 200092, China
    J Inherit Metab Dis 30:507-14. 2007
    ..Fatty acid oxidation disorders are relatively rare in the Chinese, but medium-chain acyl-CoA dehydrogenase deficiency should be further investigated...
  37. pmc HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q
    G A Mitchell
    Service de Genetique Medicale, Hopital Sainte Justine, Montreal, Quebec H3T 1C5, Canada
    Am J Hum Genet 62:295-300. 1998
    ..Codons 41 and 42 are important for normal HL catalysis and account for a disproportionate 21 (26%) of 82 of mutant alleles in our group of HL-deficient probands...
  38. ncbi Human flavin-containing monooxygenase form 3: cDNA expression of the enzymes containing amino acid substitutions observed in individuals with trimethylaminuria
    J R Cashman
    Seattle Biomedical Research Institute, Washington 98109, USA
    Chem Res Toxicol 10:837-41. 1997
    ..The data show that the functional activity of human FMO3 can be significantly altered by amino acid changes that have been observed in individuals with clinically diagnosed trimethylaminuria...
  39. ncbi Feature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency
    Sirikit Ho
    Division of Metabolic Diseases, Department of General Pediatrics, University Children s Hospital, Heidelberg, Germany
    Clin Chem 53:1330-7. 2007
    ..Published diagnostic criteria for these disorders normally incorporate a primary metabolic marker combined with secondary markers, often analyte ratios, for which the markers have been chosen to reflect metabolic pathway deviations...
  40. ncbi Methylmalonic and propionic acidaemias: management and outcome
    H Ogier de Baulny
    Hopital Robert Debre, Paris, France
    J Inherit Metab Dis 28:415-23. 2005
    ..These results emphasize the need for permanent metabolic follow-up whatever the therapeutic strategy...
  41. ncbi Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report
    Hye Ran Yoon
    Department of Biochemical Genetics, Seoul Clinical Laboratories, Seoul Medical Science Institute, 7 14 Dongbinggo dong Yongsan gu, Seoul, 140 809, Republic of Korea
    Clin Chim Acta 354:167-80. 2005
    ....
  42. ncbi Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement
    Neil Gordon
    Dev Med Child Neurol 47:207-10. 2005
  43. ncbi Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism
    Jordan P Lerner-Ellis
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada
    Hum Mutat 24:509-16. 2004
    ..Restriction endonuclease or heteroduplex diagnostic tests were designed to confirm mutations. None of the sequence changes identified in cblA patients were found in 100 alleles from unrelated control individuals...
  44. ncbi Nutritional management of patients with urea cycle disorders
    R H Singh
    Emory Genetics Metabolic Nutrition Program, Department of Human Genetics, Emory University, 2165 North Decatur Road, Decatur, GA 30033, USA
    J Inherit Metab Dis 30:880-7. 2007
    ..The present paper discusses nutrition therapy for a range of circumstances: during an acute hyperammonaemic episode and at hospital discharge; before, during, and after surgery; and for lifelong chronic management of UCDs...
  45. ncbi Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry
    Giancarlo la Marca
    Rapid Commun Mass Spectrom 17:2688-92. 2003
  46. ncbi 14C-propionate incorporation assay by rapid filtration in multiwell plates
    Hiroaki Kakinuma
    Department of Pediatrics, Kanazawa Medical University, 1 1 Daigaku, Uchinada, Ishikawa 920 0293, Japan
    Clin Chim Acta 343:209-12. 2004
    ..Unfortunately, there has been no rapid and reliable method for the evaluation of cobalamin dependency...
  47. ncbi Study of inherited metabolic disorders in Singapore - 13 years experience
    It Koon Tan
    Clinical Biochemistry Laboratories, Department of Pathology, Singapore General Hospital, Singapore
    Ann Acad Med Singapore 35:804-13. 2006
    ..When the 5-year project ended, investigations were provided as a diagnostic service. This paper documents our 13-year experience...
  48. ncbi Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency
    Bianca T van Maldegem
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    JAMA 296:943-52. 2006
    ..Screening for SCADD is included in expanded newborn screening programs in most US and Australian states...
  49. ncbi Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience
    Deborah Marsden
    Children s Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Southeast Asian J Trop Med Public Health 34:111-4. 2003
    ..Preliminary data suggest that the screened patients have an improved clinical outcome with fewer hospitalizations and so far, no neurological complications...
  50. ncbi A study on the nature of genetic metabolic practice at a major paediatric referral centre
    H C Glass
    Division of Pediatric Neurology, Alberta Children s Hospital, University of Calgary, Alberta
    J Inherit Metab Dis 29:175-8. 2006
    ....
  51. ncbi [Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency]
    Frodi Joensen
    Børneafdelingen, Amtssygehuset i Gentofte, DK 2900 Hellerup
    Ugeskr Laeger 168:667-70. 2006
    ..None of the mutations for the three diseases is particularly frequent, but all children in the Faeroe Islands with one of the three metabolic diseases are homozygous for one specific mutation, which must be due to a founder effect...
  52. ncbi Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations
    Chantal F Morel
    Department of Human Genetics and Division of Medical Genetics, Department of Medicine, McGill University, Montreal, Que, Canada
    Mol Genet Metab 88:315-21. 2006
    ..Further study into disease mechanism of specific mutations will help to understand phenotypic presentations and the overall pathogenesis in cblC patients...
  53. ncbi Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria
    Jordan P Lerner-Ellis
    Department of Human Genetics, McGill University, Montreal, Que, Canada
    Mol Genet Metab 87:219-25. 2006
    ..556C >T (p.R186W), was particularly common, accounting for 33% of pathogenic alleles. It was seen almost exclusively in patients of European background and was typically associated with presentation in the first year of life...
  54. pmc Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders; retrospective experience of more than 2,500 cases from a single centre
    G Anderson
    Department of Histopathology, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK
    J Clin Pathol 58:1305-10. 2005
    ..A range of metabolic diseases can result in abnormal accumulation of metabolic byproducts, resulting in abnormal lymphocyte cytoplasmic vacuolation, identifiable on routine blood film examination...
  55. ncbi The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome
    Terry G J Derks
    Division and Laboratory of Metabolic Diseases, Department of Pediatrics, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    J Pediatr 148:665-670. 2006
    ..To describe the clinical presentation and long-term follow-up of a large cohort of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency...
  56. ncbi Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry
    Ina Schymik
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
    J Pediatr 149:128-30. 2006
    ..An increased C14:1-carnitine level can also occur in heterozygous individuals. Elevated C14:1-carnitine level on neonatal screening warrants further diagnostic workup even if a repeat sample demonstrates normal acylcarnitine levels...
  57. ncbi [Inborn errors of metabolism (IEM) in adults. A new challenge to internal medicine]
    Martin Schwarz
    Klinik fur Gastroenterologie, Hepatologie und Infektiologie, Universitätsklinikum der Heinrich Heine Universität, Dusseldorf
    Med Klin (Munich) 100:547-52. 2005
    ....
  58. ncbi Pyruvate kinase (PK) deficiency in newborns: the pitfalls of diagnosis
    Serge Pissard
    Laboratoire de Biochimie Génétique et INSERM U 841 eq 11, Hopital Henri Mondor, Creteil, France
    J Pediatr 150:443-5. 2007
    ..We report five cases, with a 1- to 17-month delayed diagnosis, highlighting the need to measure PK activity in neonates and parents in case of an hemolysis at birth...
  59. ncbi Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening
    C Ficicioglu
    Section of Metabolism, Children s Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA 19104 4399, USA
    Pediatr Cardiol 26:881-3. 2005
    ..This finding should enable studies to determine if presymptomatic treatment could change the outcome in this often fatal disorder...
  60. ncbi Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan
    Go Tajima
    Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima 734 8551, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 823:122-30. 2005
    ..These results indicate that the method can be a useful confirmatory test for MS/MS screening of MCAD deficiency...
  61. ncbi Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification
    Regina Ensenauer
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Genet Med 7:339-43. 2005
    ..The common MCAD gene (ACADM) mutation 985A>G (p.K329E), accounting for the majority of cases in Caucasians, has not been detected in this ethnic group, and the spectrum of ACADM mutations has remained unknown...
  62. ncbi Practical aspects of managing low protein diets
    Sue Thompson
    Western Sydney Genetic Program, The Children s Hospital at Westmead, Westmead, Sydney, Australia
    Southeast Asian J Trop Med Public Health 34:208-11. 2003
    ..The support of other families dealing with similar conditions can also be invaluable...
  63. ncbi Challenges of managing patients with inherited metabolic disorders in a developing country
    Phyllis B Acosta
    Ross Products Division, Abbott Laboratories, Columbus, Ohio, USA
    Southeast Asian J Trop Med Public Health 34:202-7. 2003
    ..Specialized medical, public health, community and home environments all contribute challenges of managing patients with IMDs in developing countries...
  64. ncbi An introduction to nutritional treatment in inborn errors of metabolism--different disorders, different approaches
    Bridget Wilcken
    The Children s Hospital at Westmead, Sydney, Australia
    Southeast Asian J Trop Med Public Health 34:198-201. 2003
    ..Many patients with inborn errors do not need any specific dietary therapy, (eg those with storage or neurodegenerative disorders), although all children benefit from an optimal diet, and sick children need this especially...
  65. ncbi A retrospective ESI-MS/MS analysis of newborn blood spots from 18 symptomatic patients with organic acid and fatty acid oxidation disorders diagnosed either in infancy or in childhood
    H Kobayashi
    Department of Paediatrics, Shimane University Faculty of Medicine, 89 1 Enya, Izumo, Shimane, 693 8501, Japan
    J Inherit Metab Dis 30:606. 2007
    ..However, this study suggests that prognoses of metabolic disorders that occur after the newborn period can expect to be improved by early detection...
  66. ncbi Detection of herpes simplex virus DNA in dried blood spots making a retrospective diagnosis possible
    Ilona Lewensohn-Fuchs
    Department of Immunology, Microbiology and Pathology, Division of Clinical Virology, Karolinska Institutet, F 68 Huddinge University Hospital, 14186 Stockholm, Sweden
    J Clin Virol 26:39-48. 2003
    ....
  67. ncbi Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany
    Daniela A Klose
    Division of Metabolic and Endocrine Disorders, University Children s Hospital, Heidelberg, Germany
    Pediatrics 110:1204-11. 2002
    ..To determine the incidence of symptomatic children with inherited organic acid disorders (OADs) and fatty acid oxidation disorders (FAODs) in Germany...
  68. ncbi Inherited metabolic disorders in Thailand
    Pornswan Wasant
    Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
    J Med Assoc Thai 85:S700-9. 2002
    ....
  69. ncbi Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations
    Keow Giak Sim
    Department of Paediatrics and Child Health, University of Sydney, NSW, Australia
    Mol Genet Metab 76:327-34. 2002
    ..This would be particularly useful information for the asymptomatic/pre-symptomatic FAO-deficient infant detected by the expanded newborn screening program, in whom the risk of developing symptoms later in life is not known...
  70. ncbi Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency: the case for screening all newborns
    Vinod N Alluri
    College of Public Health, University of Oklahoma Health Sciences Center, USA
    J Okla State Med Assoc 95:326-8. 2002
    ..In Oklahoma and elsewhere, there is current discussion, which we summarize, on whether or not to include MCAD deficiency in the routine neonatal screening program. We suggest the evidence says, "Start now."..
  71. ncbi Tandem mass spectrometry and newborn screening: pilot data and review
    James J Filiano
    Department of Pediatrics, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire 03756, USA
    Pediatr Neurol 26:201-4. 2002
    ..We conclude that institution of expanded screening will bring diminished morbidity and large savings in yearly chronic care and critical care charges...
  72. ncbi Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency
    Barry Wolf
    Department of Research, Connecticut Children s Medical Center, Hartford 06106, USA
    J Pediatr 140:242-6. 2002
    ..The biochemical, genotype, and clinical variations do not correlate with the development of hearing loss. Thus, it is very important to diagnose the disorder early, especially by newborn screening, to prevent the hearing loss...
  73. pmc Dominant inheritance of sialuria, an inborn error of feedback inhibition
    J G Leroy
    Departments of Pediatrics and Medical Genetics, Ghent University School of Medicine, B 9000 Ghent, Belgium
    Am J Hum Genet 68:1419-27. 2001
    ..These findings call for expansion of the phenotype to include adults and for more-extensive assaying of free NeuAc in the urine of children with mild developmental delay. The prevalence of sialuria is probably grossly underestimated...
  74. ncbi Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts
    B Rapp
    , Germany
    Eur J Pediatr 160:283-7. 2001
    ..CONCLUSION: Cultured fibroblasts are an easily accessible source for genetic analysis of inborn errors of urea cycle enzymes which are functionally expressed only in liver and gut...
  75. ncbi Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria
    D Möslinger
    Department of Paediatrics, University Hospital Vienna, Austria
    Eur J Pediatr 160:277-82. 2001
    ..Moderate mental retardation might represent a possible manifestation of cerebral dysfunction in patients with profound biotinidase deficiency...
  76. ncbi Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration
    W E Smith
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    Pediatrics 107:1184-7. 2001
    ..Therefore, a high suspicion of GA-I must be maintained in the evaluation of childhood dystonia, even when newborn screening results are reportedly normal...
  77. pmc Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations
    M E Chamberlin
    Heritable Disorders Branch, National Institute of Child Health and Human Development NICHD, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 66:347-55. 2000
    ....
  78. ncbi [Diagnostic focus on the child with epilepsy and neuropsychological deterioration]
    A C Rodríguez-Barrionuevo
    Hospital Materno Infantil, Unidad de Neuropediatria, Carlos Haya, Malaga, Espana
    Rev Neurol 26:322-30. 1998
    ....
  79. ncbi [Diagnostic focus on the child with generalized seizures]
    C Casas-Fernandez
    Sección de Neuropediatría, Hospital Universitario Virgen de la Arrixaca, El Palmar, Murcia, Espana
    Rev Neurol 26:311-21. 1998
    ..The diagnostic value of other complementary tests in such crises is considered...
  80. ncbi [Diagnostic focus on the child with myoclonic seizures in isolation or associated with other types of seizures]
    J L Herranz
    , , Facultad de Medicina, Santander,
    Rev Neurol 26:301-7. 1998
    ..The most specific clinical characteristics of each of these clinical pictures are described, as are the complementary tests which permit confirmation of these diagnoses...
  81. ncbi Biochemical characterization of propionyl CoA carboxylase deficiency: heterogeneity within a single genetic complementation group
    C McKeon
    Biochem Genet 20:77-94. 1982
    ..Moreover, there is biochemical heterogeneity within the pcc BC complementation group that probably represents different interallelic gene mutations...
  82. pmc X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency
    F Huijing
    Am J Hum Genet 21:275-84. 1969
  83. ncbi Validation of an ESI-MS/MS screening method for acylcarnitine profiling in urine specimens of neonates, children, adolescents and adults
    P Mueller
    University Children s Hospital, Oststrasse 21 25, Leipzig D 04317, Germany
    Clin Chim Acta 327:47-57. 2003
    ..We therefore developed and validated a butylation method of acylcarnitine profiling in urine by ESI-MS/MS without previous chromatographic separation...
  84. ncbi [Diagnosis and acute treatment of inborn metabolic diseases in infants]
    Allan Meldgaard Lund
    Klinisk genetisk afdeling 4062, H S Rigshospitalet, DK 2100 København Ø
    Ugeskr Laeger 164:5613-9. 2002
    ..To achieve this it is important to think metabolic and screen for metabolic diseases when examining for sepsis. The article reviews the principles of early diagnosis and treatment of metabolic diseases in the first year of life...
  85. ncbi [Model project for reorganising of newborn screening]
    U Nennstiel-Ratzel
    Bayerisches Landesamt für Gesundheit und Lebensmittelsicherheit, Oberschleissheim
    Gesundheitswesen 65:S31-5. 2003
    ..To establish a newborn screening programme for congenital metabolic or endocrine defects which meets the national requirements in Germany: documentation of complete and early diagnosis...
  86. ncbi Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening
    Daisuke Hori
    Department of Pediatrics, Faculty of Medicine, Shimane University, 89 1 En ya cho, Izumo, Shimane 693 8501, Japan
    Brain Dev 27:39-45. 2005
    ..We concluded that detection of such patients at the presymptomatic stages using newborn mass screening is essential for prognosis improvement with OAs...
  87. ncbi Investigating intellectual disability: a genetic perspective
    N K Poplawski
    Women s and Children s Hospital, North Adelaide, University of Adelaide, Adelaide, South Australia, Australia
    J Paediatr Child Health 39:492-506. 2003
    ..There is a great need for systematic evaluation of the diagnostic yield of investigation templates based on this proposed stratification of investigations...
  88. ncbi Incidence of classical 21-hydroxylase deficiency and distribution of CYP21A2 mutations in Estonia
    Kaur Liivak
    Department of Paediatrics, University of Tartu, Tartu, Estonia
    Horm Res 69:227-32. 2008
    ..To determine the incidence of classical 21-hydroxylase deficiency (21-OHD) in Estonia from 1978 to 2004, and describe their phenotype and genotype...
  89. ncbi Inherited metabolic disorders and seizures in infancy
    Darryl C De Vivo
    J Child Neurol 17:3S1-2. 2002
  90. ncbi Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin
    Ingrid Tein
    Division of Neurology, Department of Pediatrics, Laboratory Medicine and Pathobiology, Hospital for Sick Children, University of Toronto, Toronto, Canada M5G 1X8
    Mol Genet Metab 93:179-89. 2008
    ..This should be screened for in individuals with multicore myopathy, particularly among the Ashkenazim...
  91. ncbi Newborn screening compared to clinical identification of biochemical genetic disorders
    S E Waisbren
    Children s Hospital, Inborn Errors of Metabolism Clinic, Boston, Massachusetts 02115, USA
    J Inherit Metab Dis 25:599-600. 2002
    ..The patients diagnosed clinically showed a higher incidence of mental retardation and their parents experienced greater stress and found greater difficulty in meeting their child's needs...
  92. ncbi [Effects of childhood nutrition on adult health]
    A Martinez Valverde
    Universidad de Málaga Spain
    Allergol Immunopathol (Madr) 31:166-72. 2003
    ....
  93. ncbi Nutritional therapy for selected inborn errors of metabolism
    H L Levy
    Harvard Medical School, Boston, Massachusetts
    J Am Coll Nutr 8:54S-60S. 1989
    ..Glycogen storage disease Type I, which causes hypoglycemia, can be controlled by oral administration of cornstarch...
  94. ncbi Biomarker discovery, disease classification, and similarity query processing on high-throughput MS/MS data of inborn errors of metabolism
    Christian Baumgartner
    Research Group for Clinical Bioinformatics, Institute for Biomedical Engineering, University for Health Sciences, Medical Informatics and Technology, A 6060 Hall i T, Austria
    J Biomol Screen 11:90-9. 2006
    ..Some novel secondary candidates were identified (i.e., C16:1 and C4DC for PKU, C4DC for GA-I, and C18:1 forMCADD), which require further validation to confirm their biochemical role during health and disease...
  95. ncbi Newborn screening
    Bridget Wilcken
    The Children s Hospital, Westmead, Australia
    Pathology 40:104-15. 2008
    ..Newborn screening has entered a new and exciting phase, with an explosion of new treatments, new technologies, and, possibly in the future, new preventive strategies...
  96. ncbi Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential
    Charles R Roe
    Institute of Metabolic Disease, Baylor University Medical Center, 3812 Elm Street, Dallas, TX 75226, USA
    J Inherit Metab Dis 29:332-40. 2006
    ....
  97. pmc Contrasting features of urea cycle disorders in human patients and knockout mouse models
    Joshua L Deignan
    Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, CA 90095 1732, USA
    Mol Genet Metab 93:7-14. 2008
    ..Consequently, all of the current mouse models are highly useful for future research into novel pharmacological and dietary treatments and gene therapy protocols for the management of urea cycle disorders...
  98. ncbi Recommended clinical evaluation of infants with an apparent life-threatening event. Consensus document of the European Society for the Study and Prevention of Infant Death, 2003
    Andre Kahn
    University Hospital for Children, Av J J Crocq 15, 1020 Brussels, Belgium
    Eur J Pediatr 163:108-15. 2004
    ..Long-term follow-up programmes of infants with an apparent life-threatening event contribute to adapt medical attitudes to the child's needs and to confirm the medical diagnosis...
  99. pmc Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency
    P Goyette
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada
    Am J Hum Genet 56:1052-9. 1995
    ..Other missense mutations (arginine to cysteine and arginine to glutamine) are associated with higher enzyme activity and later onset of symptoms...
  100. ncbi Effect of zinc-carnosine complex on muscular function in frail distrophin-deficient (mdx) mice
    Tsukasa Tameyasu
    Department of Physiology, St Marianna University School of Medicine, Kawasaki, 216 8511 Japan
    Jpn J Physiol 52:449-56. 2002
    ..These results suggest that Z-103 reduces fatigability of the whole body in mdx mice, possibly by increasing the contractility of slow fibers...
  101. ncbi Transient hyperammonemia due to urea cycle enzyme deficiency in Irish wolfhounds
    M M J M Zandvliet
    Department of Clinical Sciences of Companion Animal Medicine, Faculty of Veterinary Medicine, Utrecht University, The Netherlands
    J Vet Intern Med 21:215-8. 2007
    ..This hyperammonemia causes no signs and is transient, normalizing at the age of 3-4 months...

Research Grants67

  1. Society for Inherited Metabolic Disorders Annual Meeting
    Gerard Vockley; Fiscal Year: 2005
    ..NIH support of this application will greatly facilitate US investigators remaining in the forefront of this exciting and expanding field. ..
  2. NEUROTRANSMITTERS, APPETITE & INBORN METABOLISM ERRORS
    Mark Batshaw; Fiscal Year: 1991
    ..This study should add to knowledge about the biological basis of feeding disturbances in certain disorders and provide new treatment approaches to these conditions...
  3. MECHANISMS OF GENOMIC IMPRINTING
    Andrew Hoffman; Fiscal Year: 2007
    ..Ultimately, it will be possible to develop a comprehensive chromatin/DNA model of imprinting. [unreadable] [unreadable]..
  4. MOLECULAR CHARACTERIZATION OF ACYL-COA DEHYDROGENASES
    Gerard Vockley; Fiscal Year: 2004
    ..This work will lead to a more complete understanding of the ACD gene family, and ultimately, to an improved ability to diagnose and treat patients with deficiencies of these enzymes. ..
  5. Gene delivery to striated muscle by systemic AAV vectors
    Dwight D Koeberl; Fiscal Year: 2010
    ..Efficacious muscle-targeted gene therapy in GSD-II will have implications for gene therapy in other muscular dystrophies and myopathies. ..
  6. Symposium on Pediatric Neurotransmitter Disease
    K Michael Gibson; Fiscal Year: 2002
    ..The perspectives of parents of affected children wilI be an important component of this conference. ..
  7. Cell Therapy by In Vivo Fusion
    Markus Grompe; Fiscal Year: 2007
    ..Aim 3 is geared toward enhancing the efficiency of in vivo fusion and thereby increasing the number of bone marrow derived hepatocytes. Fusogenic viral envelope proteins will be used to artificially induce cell fusion. ..
  8. Isolation of Murine Pancreatic Liver Stem Cells
    Markus Grompe; Fiscal Year: 2004
    ..Monoclonal antibodies useful for FACS sorting of pancreatic cells will be generated. We will apply cell-sorting methods to enrich pancreatic liver stem cells. ..
  9. Anaplerotic therapy in Propionic Acidemia
    Nicola Longo; Fiscal Year: 2008
    ..This approach, if effective, could be extended to a number of other diseases, including other organic acidemias and mitochondrial disorders. [unreadable] [unreadable] [unreadable]..
  10. Medical Management of Pediatric Neurotransmitter Disorders- A Multidisciplinary
    K Michael Gibson; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  11. FASEB Conference: Mechanisms of Liver Growth and Disease
    Markus Grompe; Fiscal Year: 2004
    ..abstract_text> ..
  12. THE CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2010
    ....
  13. Mechanisms for immune tolerance in Pompe Disease
    Dwight D Koeberl; Fiscal Year: 2010
    ..These comparisons will guide preclinical experiments to further immunomodulatory gene therapy in Pompe disease and other lysosomal storage disorders. ..
  14. Attentional Dysfunction in Children with Phenylketonuria
    Georgianne Arnold; Fiscal Year: 2008
    ....
  15. The Transcobalamin Receptor in Cobalamin Homeostasis
    Edward V Quadros; Fiscal Year: 2010
    ..abstract_text> ..
  16. Diet treatment of Galactosemic Infants: A Pilot Study
    Can Ficicioglu; Fiscal Year: 2007
    ..Evidence from this study may have a future impact on how newborn galactosemics are treated with a potential for moderating long-term complications. [unreadable] [unreadable]..
  17. Liver Injury in Alpha-1-Antitrypsin Deficiency
    David Perlmutter; Fiscal Year: 2007
    ..Thus, the studies proposed in this competitive renewal application will address the novel concept that oxidative stress causes, or contributes to, liver cell injury in alpha-1-ATZ deficiency. ..
  18. NEONATAL BILIRUBIN NEUROTOXICITY AND P-GLYCOPROTEIN
    Jon Watchko; Fiscal Year: 2007
    ..abstract_text> ..
  19. Lamin A Mutation and Hutchinson-Gilford Progeria
    Howard Worman; Fiscal Year: 2008
    ..This project will establish how mutations in nuclear lamins A and C cause HGPS, and if inhibition of protein farnesylation is a potential therapeutic intervention. ..
  20. Screening for Genetic Mechanisms for Biliary Atresia
    David Perlmutter; Fiscal Year: 2006
    ..These studies will provide new information about and a basis for many additional studies of the pathogenesis, natural history, early diagnosis and treatment of BA, a rare and severe liver disease of infants ..
  21. Development of a Novel Method for Inhibiting Atherosclerosis in Diabetes
    David Clemmons; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  22. Dysregulation of 3-prolyl-hydroxylation in Human Skeletal Dysplasias
    BRENDAN HL LEE; Fiscal Year: 2010
    ..e., the in vivo phenotypic and biochemical consequences of dysregulation of the 3-prolyl-hydroxylation machinery. ..
  23. Cancer-Related Glycolytic Gene:Regulation and Targeting
    Peter Pedersen; Fiscal Year: 2008
    ..abstract_text> ..
  24. Computer Decision Aid for ADHD Management (CDAAM)
    Aaron E Carroll; Fiscal Year: 2010
    ..We will assess the quality of ADHD services at baseline and again at 12 months post implementation. These methods will allow a thorough description of the intervention's role in the process of ADHD management. ..
  25. Combinatorial Approaches to SCI
    Mark Tuszynski; Fiscal Year: 2008
    ..We further have a track record of responsibly translating promising therapies from the bench to bedside. ..
  26. LOCAL EXPRESSION OF ALPHA-1-ANTITRYPSIN IN EMPHYSEMA
    David Perlmutter; Fiscal Year: 2008
    ....
  27. The Role of Mitochondrial DNA Alterations in Cancer
    Lee Jun Wong; Fiscal Year: 2008
    ..Results from this research project will help us understand the functional role of mitochondrial DNA alterations in cancer and identify potential novel targets for more effective therapeutic development. ..
  28. CONTROL OF ENZYMATIC PHOSPHATE TRANSFER IN MITOCHONDRIA
    Peter Pedersen; Fiscal Year: 2009
    ..These studies also have direct relevance to using nanotechnology in medicine as the ATP synthasome is comprised of 2 reversible nanomotors. ..
  29. Nutritional Treatment of Fat Oxidation Defect in Mice
    Henri Brunengraber; Fiscal Year: 2009
    ..To improve the survival of newborn MTP -/- mice. ..
  30. Transcriptional Regulation of Craniofacial Skeletogenesis
    Brendan Lee; Fiscal Year: 2009
    ....
  31. ENTERAL PRECURSORS FOR UREA SYNTHESIS IN HUMANS
    Brendan Lee; Fiscal Year: 2006
    ..In addition it is anticipated that the results will benef it other individuals who have compromised protein metabolism. ..
  32. The acd mouse: a model for congenital adrenal hypoplasia
    Catherine Keegan; Fiscal Year: 2006
    ..Ultimately, through this additional training I will be poised to continue my long-term career goal of becoming an Independent Investigator. ..
  33. MOLECULAR MECHANISMS OF ADRENAL DEVELOPMENT
    Edward McCabe; Fiscal Year: 2004
    ..In addition, we will elucidate mechanisms and identify candidate genes for pathologic processes as varied as adrenal cortical aplasia, hypoplasia and tumorigenesis. ..
  34. MANNOSE IN MAMMALIAN GLYCOPROTEIN SYNTHESIS
    Hudson Freeze; Fiscal Year: 2001
    ..In some cases, mannose may be a therapeutic dietary supplement. A mannose supplementation trial for CDGS patients is now underway. ..
  35. HIGH DENSITY LIPOPROTEIN SUBSPECIES AND CORONARY DISEASE
    Bela Asztalos; Fiscal Year: 2003
    ..The investigators state that these studies should provide better understanding about the diagnosis and treatment of HDL deficiency for the prevention of CHD. ..
  36. NETWORK OF PEDIATRIC PHARMACOLOGY RESEARCH UNITS
    Michael Brady; Fiscal Year: 2003
    ..This would enhance the pace of pediatric drug development, increase the number of trained pediatric pharmacologists available, and improve both the amount and quality of pediatric pharmacology research produced. ..
  37. MOLECULAR AND CHEMICAL DESCRIPTION OF CFTR FUNCTION
    Peter Pedersen; Fiscal Year: 2003
    ..The proposed studies are fundamental to understanding structure/function relationships within CFTR, to understanding the underlying basis of most cases of CF, and to developing new strategies to treat the disease. ..
  38. GC Continuous Flow Isotope Ratio Mass Spectrometer
    Henri Brunengraber; Fiscal Year: 2003
    ..The costs of operating and maintaining the instrument will be shared by the users. The availability of this instrument will considerably increase the scope of the basic science and clinical investigations conducted by the applicants. ..
  39. THE WEINSTEIN CONFERENCE ON CARDIOVASCULAR DEVELOPMENT
    Arnold Strauss; Fiscal Year: 2002
    ..NIH support would provide increased accessibility for students and fellows, stabilization of year to year planning for these meetings, and increase representation of women and minorities amount conference participants. ..
  40. GENOTOXICITY IN CYP1A2 DEFICIENT TRANSGENIC MICE
    Daniel Nebert; Fiscal Year: 2002
    ..S. population. ..
  41. TRANSCRIPTIONAL REGULATORS IN CHONDROGENESIS
    Brendan Lee; Fiscal Year: 2002
    ....
  42. REGULATION OF CARDIAC ENERGY PRODUCING ENZYMES
    Arnold Strauss; Fiscal Year: 2001
    ....
  43. COMBINATORIAL PHARMACOTHERAPIES FOR COCAINE DEPENDENCE
    John Cashman; Fiscal Year: 2001
    ..The study will provide an understanding of the structural and pharmaceutical properties of hDAT antagonists. The work will lead to new insight into the preparation of human medications necessary in the cessation of cocaine abuse. ..
  44. Graduate Medical Education in Genetics
    Margaret McGovern; Fiscal Year: 2004
    ..abstract_text> ..
  45. DUX4 and Facioscapulohumeral Muscular Dystrophy
    Howard Worman; Fiscal Year: 2004
    ..This work could lead to the development of new diagnostic methods as well as the identification of potential protein targets for the treatment of FSHD. ..
  46. Adenoviral hepatocyte gene therapy in Citrullinemia
    Brendan Lee; Fiscal Year: 2005
    ..The data from these studies would be widely applicable to gene replacement therapy in a host of intrinsic disorders of liver metabolism as well as deficiencies of secretory proteins. ..
  47. Novel Carboxylated Glycans in Cell Adhesion
    Hudson Freeze; Fiscal Year: 2006
    ....
  48. Fetal Stromal Progenitor Cells
    Alan Flake; Fiscal Year: 2006
    ..abstract_text> ..
  49. Amine N-Oxygenation by FMO3 and FMO4
    John Cashman; Fiscal Year: 2005
    ..Such fundamental information will be useful in the development of safer drugs, the prevention of adverse drug reactions and the protection of humans from disease. ..
  50. Basis of Post-Fontan Protein Losing Enteropathy
    Hudson Freeze; Fiscal Year: 2006
    ..The results could provide a fundamental understanding of how PLE develops, identify Fontan patients genetically at risk for developing PLE, and provide insights to new therapeutics for this enigmatic rare disease. ..
  51. A Policy-Oriented History of Newborn Screening for PKU
    Diane Paul; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  52. Novel Carboxylated N-Glycans that Mediate Inflammation
    Hudson Freeze; Fiscal Year: 2003
    ..The impact of solving these structures could be quite substantial. However, in the past, we have had difficulty establishing this structure, and therein lies the risk in this project and why it responds to PA-97-049. ..
  53. Essential role of biotin in cell proliferation
    Janos Zempleni; Fiscal Year: 2004
    ..The basic knowledge generated may well be relevant to teratogenesis and immune dysfunction caused by biotin deficiency. ..
  54. Therapeutic Inhibitors of Phosphomannose Isomerase
    Hudson Freeze; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  55. The Clinical Interface of Molecular and Cellular Biology
    David Perlmutter; Fiscal Year: 2006
    ....
  56. MECHANISMS BY WHICH IGF-I STIMULATES SMOOTH MUSCLE CELLS
    David Clemmons; Fiscal Year: 2007
    ..The results may suggest novel strategies for interfering with these processes to alter the progression of atherosclerosis. ..
  57. IGF AXIS IN ASTHMA
    Pinchas Cohen; Fiscal Year: 2002
    ..We believe that these studies may help us understand the dis-regulated growth of asthmatic airway smooth muscle and allow us to optimize our therapeutic approaches to this disease. ..
  58. Epigenetic effects of biotin on activation of endogenous viral sequences
    Janos Zempleni; Fiscal Year: 2007
    ..These studies are likely to identify means by which manipulation of the environmental factor "diet" increases genomic stability and decreases cancer risk. [unreadable] [unreadable] [unreadable] [unreadable]..
  59. In Vivo Metabolism of Pulmonary Surfactant in Infants
    Aaron Hamvas; Fiscal Year: 2005
    ..abstract_text> ..
  60. ARTHEROSCLEROSIS IN INSULIN-RESISTANT, HYPERLIPIDEMIC P*
    David Clemmons; Fiscal Year: 2005
    ....
  61. IGF-I: A Nutrition-Regulated Target in Prostate Cancer
    Pinchas Cohen; Fiscal Year: 2007
    ....