Nicola Longo

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. ncbi request reprint Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial
    Nicola Longo
    University of Utah, Salt Lake City, UT, USA Electronic address
    Lancet 384:37-44. 2014
  2. doi request reprint Disorders of biopterin metabolism
    Nicola Longo
    Division of Medical Genetics, Department of Pediatrics and Pathology, University of Utah, 2C 412 SOM, 50 North Mario Capecchi Drive, Salt Lake City, UT 84132, USA
    J Inherit Metab Dis 32:333-42. 2009
  3. ncbi request reprint Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation
    N Longo
    Department of Pediatrics and Pathology, University of Utah, Salt Lake City, Utah, USA
    J Inherit Metab Dis 27:691-2. 2004
  4. ncbi request reprint Mitochondrial encephalopathy
    Nicola Longo
    Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA
    Neurol Clin 21:817-31. 2003
  5. ncbi request reprint Inborn errors of metabolism: new challenges with expanded newborn screening programs
    Nicola Longo
    Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT, USA
    Am J Med Genet C Semin Med Genet 142:61-3. 2006
  6. doi request reprint Disorders of creatine transport and metabolism
    Nicola Longo
    Division of Medical Genetics, University of Utah, Salt Lake City, 84132, USA
    Am J Med Genet C Semin Med Genet 157:72-8. 2011
  7. ncbi request reprint Genotype-phenotype correlation in inherited severe insulin resistance
    Nicola Longo
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City 84103, USA
    Hum Mol Genet 11:1465-75. 2002
  8. ncbi request reprint Noninvasive measurement of phenylalanine by iontophoretic extraction in patients with phenylketonuria
    N Longo
    Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA
    J Inherit Metab Dis 30:910-5. 2007
  9. pmc Disorders of carnitine transport and the carnitine cycle
    Nicola Longo
    Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT, USA
    Am J Med Genet C Semin Med Genet 142:77-85. 2006
  10. doi request reprint Progressive cerebral vascular degeneration with mitochondrial encephalopathy
    Nicola Longo
    Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 146:361-7. 2008

Research Grants

  1. CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2000
  2. THE CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2009
  3. THE CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2009
  4. Anaplerotic therapy in Propionic Acidemia
    Nicola Longo; Fiscal Year: 2007
  5. THE CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2007
  6. THE CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2006
  7. CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2003
  8. CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2001
  9. CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2002
  10. CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2001

Detail Information

Publications48

  1. ncbi request reprint Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial
    Nicola Longo
    University of Utah, Salt Lake City, UT, USA Electronic address
    Lancet 384:37-44. 2014
    ....
  2. doi request reprint Disorders of biopterin metabolism
    Nicola Longo
    Division of Medical Genetics, Department of Pediatrics and Pathology, University of Utah, 2C 412 SOM, 50 North Mario Capecchi Drive, Salt Lake City, UT 84132, USA
    J Inherit Metab Dis 32:333-42. 2009
    ..Several patients with BH4 deficiency treated since the newborn period have reached adult age with good outcome...
  3. ncbi request reprint Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation
    N Longo
    Department of Pediatrics and Pathology, University of Utah, Salt Lake City, Utah, USA
    J Inherit Metab Dis 27:691-2. 2004
    ..Before confirmation of diagnosis, daily dialysis was the only mechanism by which to normalize her persistent metabolic acidosis of unknown aetiology...
  4. ncbi request reprint Mitochondrial encephalopathy
    Nicola Longo
    Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA
    Neurol Clin 21:817-31. 2003
    ..Therapy for mitochondrial disorders remains largely ineffective...
  5. ncbi request reprint Inborn errors of metabolism: new challenges with expanded newborn screening programs
    Nicola Longo
    Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT, USA
    Am J Med Genet C Semin Med Genet 142:61-3. 2006
  6. doi request reprint Disorders of creatine transport and metabolism
    Nicola Longo
    Division of Medical Genetics, University of Utah, Salt Lake City, 84132, USA
    Am J Med Genet C Semin Med Genet 157:72-8. 2011
    ..The excellent response to therapy of early identified patients with GAMT or AGAT deficiency candidates these condition for inclusion in newborn screening programs...
  7. ncbi request reprint Genotype-phenotype correlation in inherited severe insulin resistance
    Nicola Longo
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City 84103, USA
    Hum Mol Genet 11:1465-75. 2002
    ..These results indicate that mutations in the insulin receptor retaining residual insulin-binding correlate with prolonged survival in our series of patients with extreme insulin resistance...
  8. ncbi request reprint Noninvasive measurement of phenylalanine by iontophoretic extraction in patients with phenylketonuria
    N Longo
    Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA
    J Inherit Metab Dis 30:910-5. 2007
    ..This correlation supports the feasibility of iontophoretic phenylalanine extraction for monitoring phenylketonuria...
  9. pmc Disorders of carnitine transport and the carnitine cycle
    Nicola Longo
    Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT, USA
    Am J Med Genet C Semin Med Genet 142:77-85. 2006
    ....
  10. doi request reprint Progressive cerebral vascular degeneration with mitochondrial encephalopathy
    Nicola Longo
    Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 146:361-7. 2008
    ..The contribution of the concomitant MCAD deficiency to the development of the phenotype in this case is unclear...
  11. pmc Genotype-phenotype correlation in primary carnitine deficiency
    Emily C Rose
    Division of Medical Genetics Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    Hum Mutat 33:118-23. 2012
    ..These results indicate that cells from asymptomatic women have on average higher levels of residual carnitine transport activity as compared to that of symptomatic patients due to the presence of at least one missense mutation...
  12. ncbi request reprint Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter
    Cristina Amat di San Filippo
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    J Biol Chem 279:7247-53. 2004
    ..These natural mutations identify tyrosine residues possibly involved in coupling the sodium electrochemical gradient to transmembrane solute transfer in the sodium-dependent co-transporter OCTN2...
  13. pmc Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency
    Cristina Amat di San Filippo
    Department of Pediatrics and Pathology, University of Utah, Salt Lake City, UT 84132, USA
    Biochim Biophys Acta 1812:312-20. 2011
    ..Glycosylation does not affect maturation of OCTN2 transporters to the plasma membrane, but the 3 asparagines that are normally glycosylated are located in a region important for substrate recognition and turnover rate...
  14. pmc The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders
    Uzochi Chimdinma Ndukwe Erlingsson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, 84132, USA
    Biochem Biophys Res Commun 437:637-41. 2013
    ..These results indicate that valinomycin can increase fatty acid oxidation in normal fibroblasts and could be useful to differentiate heterozygotes from patients affected with VLCAD deficiency...
  15. ncbi request reprint Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene
    Steven F Dobrowolski
    Idaho Technology, Salt Lake City, Utah, USA
    Hum Mutat 25:306-13. 2005
    ..These results expand the mutational spectrum in primary carnitine deficiency and indicate dye-binding/high-resolution thermal denaturation as an ideal system to screen for mutations in diseases with no prevalent molecular alteration...
  16. pmc Cardiomyopathy and carnitine deficiency
    Cristina Amat di San Filippo
    Division of Medical Genetics, Departments of Pediatrics and Pathology, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA
    Mol Genet Metab 94:162-6. 2008
    ..These results indicate that heterozygosity for primary carnitine deficiency is not more frequent in patients with unselected types of cardiomyopathy and is unlikely to be an important cause of cardiomyopathy in humans...
  17. ncbi request reprint Pharmacological rescue of carnitine transport in primary carnitine deficiency
    Cristina Amat di San Filippo
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
    Hum Mutat 27:513-23. 2006
    ..These results indicate that OCTN2 mutations can affect carnitine transport by impairing maturation of transporters to the plasma membrane. Pharmacological therapy can be effective in partially restoring activity of mutant transporters...
  18. ncbi request reprint Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency
    Krista S Viau
    Department of Pediatrics, Division of Medical Genetics, University of Utah, 50 North Mario Capecchi Drive, 2C412 SOM, Salt Lake City, UT 84132, USA Electronic address
    Mol Genet Metab 110:255-62. 2013
    ..The goal of therapy is to increase creatine while reducing potentially neurotoxic guanidinoacetate concentrations. Here we evaluate how different therapies affect plasma guanidinoacetate levels in patients with GAMT deficiency...
  19. ncbi request reprint Creatine transporter deficiency in two half-brothers
    Orly Ardon
    Division of Medical Genetics, ARUP Inst Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah
    Am J Med Genet A 152:1979-83. 2010
    ..These results show that human fibroblasts have a single major creatine transporter and that measurement of its specific activity can confirm creatine transporter deficiency...
  20. pmc A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester, School of Medicine and Dentistry, Rochester, NY 14642, USA
    Mol Genet Metab 96:85-90. 2009
    ..This consensus protocol is intended to assist clinicians in the diagnosis and management of screen-positive newborns for VLCAD deficiency until evidence-based guidelines are available...
  21. pmc A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
    Reha M Toydemir
    Department of Human Genetics, University of Utah, Salt Lake City, UT, USA
    Am J Hum Genet 79:935-41. 2006
    ..R621H substitution in the tyrosine kinase domain and partial loss of FGFR3 function. These findings indicate that abnormal FGFR3 signaling can cause human anomalies by promoting as well as inhibiting endochondral bone growth...
  22. ncbi request reprint Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency
    Cristina Amat di San Filippo
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    J Biol Chem 278:47776-84. 2003
    ..These studies indicate that multiple domains of the OCTN2 transporter are required for carnitine transport and identify transmembrane residues important for carnitine recognition...
  23. doi request reprint Glutaric acidemia type 1: outcomes before and after expanded newborn screening
    Krista Viau
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA
    Mol Genet Metab 106:430-8. 2012
    ..0055 for oral motor function and ambulatory capability; p=0.023 for dystonic movements). Newborn screening is effective in the prevention of complications in patients with GA-1 when coupled with treatment strategies...
  24. ncbi request reprint A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 777, Rochester, NY 14642, USA
    Mol Genet Metab 93:363-70. 2008
    ..This consensus protocol is intended to assist clinicians in the diagnosis and management of screen-positive newborns for 3-MCC deficiency and to encourage the development of evidence-based guidelines...
  25. pmc Glutaric acidemia type 1
    Gary L Hedlund
    Radiology, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT, USA
    Am J Med Genet C Semin Med Genet 142:86-94. 2006
    ..Early diagnosis and therapy reduce the risk of acute dystonia in patients with GA-1...
  26. ncbi request reprint Gene expression in human cells with mutant insulin receptors
    Roberta Melis
    Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84103, USA
    Biochem Biophys Res Commun 307:1013-20. 2003
    ..Decreased expression of growth-promoting genes may explain the growth restriction of patients with severe insulin resistance...
  27. ncbi request reprint 6q subtelomeric deletion: is there a recognizable syndrome?
    David A Stevenson
    Department of Pediatrics, Divisions of Medical Genetic and Neurology, University of Utah, Salt Lake City, Utah, USA
    Clin Dysmorphol 13:103-6. 2004
    ..Subtelomeric FISH probes were useful in establishing a diagnosis in our patient. As more cases are reported, we may be able to establish discrete phenotypes and natural histories that can aid in counselling families...
  28. ncbi request reprint Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency
    Marzia Pasquali
    Department of Pathology, University of Utah, Salt Lake City, UT, 84108, USA
    J Inherit Metab Dis 37:231-6. 2014
    ....
  29. ncbi request reprint Psychiatric symptoms in adults with phenylketonuria
    Deborah A Bilder
    Department of Psychiatry, Division of Child and Adolescent Psychiatry, University of Utah School of Medicine, Salt Lake City, UT, USA
    Mol Genet Metab 108:155-60. 2013
    ..The objective of this study was to identify psychiatric symptom patterns reported by individuals with phenylketonuria (PKU) in the outpatient clinic setting...
  30. pmc Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate
    George A Diaz
    Mount Sinai School of Medicine, Department of Genetics and Genomic Sciences, Department of Pediatrics, New York, NY, USA
    Hepatology 57:2171-9. 2013
    ..gov NCT00551200, NCT00947544, NCT00992459, NCT00947297). (HEPATOLOGY 2012)...
  31. doi request reprint Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuria
    Krista S Viau
    Department Pediatrics, University of Utah, Salt Lake City, UT, USA
    J Inherit Metab Dis 34:963-71. 2011
    ....
  32. doi request reprint Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience
    Elisabeth Schwarz
    ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah 84108, USA
    Pediatr Res 66:230-5. 2009
    ..This approach was effective in identifying infants with CAH, with both salt-wasting and simple virilizing forms, while reducing the false-positive rate from 2.6 to 0.09%...
  33. doi request reprint Diagnostic guidelines for newborns who screen positive in newborn screening
    David Kronn
    Department of Pediatrics, New York Medical College, Valhalla, New York, USA
    Genet Med 12:S251-5. 2010
    ..org/msms_data_project/data_project_home.aspx). Definition of some disorders is problematic-does continued abnormality of the screening analyte constitute diagnosis or is further testing necessary?..
  34. ncbi request reprint Biochemical findings in common inborn errors of metabolism
    Marzia Pasquali
    University of Utah, and ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108, USA
    Am J Med Genet C Semin Med Genet 142:64-76. 2006
    ..Early treatment can improve the outcome of these disorders...
  35. pmc Using information prescriptions to refer patients with metabolic conditions to the Genetics Home Reference website
    Denise E Beaudoin
    Department of Biomedical Informatics, University of Utah, Salt Lake City, UT 84112, USA
    J Med Libr Assoc 99:70-6. 2011
    ....
  36. ncbi request reprint A primer on newborn screening
    Kristin Gatrell Bryant
    Newborn Critical Care Services, Primary Children s Medical Center, Salt Lake City, Utah, USA
    Adv Neonatal Care 4:306-17. 2004
    ..Providers are also responsible for informing parents about the implications of newborn screening to improve awareness and understanding...
  37. ncbi request reprint Expanded newborn screening identifies maternal primary carnitine deficiency
    Lisa A Schimmenti
    University of Minnesota, Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, Minneapolis, MN, USA
    Mol Genet Metab 90:441-5. 2007
    ..Given the lifetime risk of morbidity or sudden death, identification of adult patients with primary carnitine deficiency is an added benefit of expanded newborn screening programs...
  38. doi request reprint Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-term Follow-up Study: a collaborative multi-site approach to newborn screening outcomes research
    Erica L Wright
    Department of Pediatrics, University of Colorado Denver, Aurora, Colorado 80045, USA
    Genet Med 12:S228-41. 2010
    ..This article presents the rationale and design of the Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-Term Follow-up Study...
  39. ncbi request reprint Metabolic changes associated with hyperammonemia in patients with propionic acidemia
    Heather R Filipowicz
    Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
    Mol Genet Metab 88:123-30. 2006
    ....
  40. doi request reprint Recurrent liver failure in a 25-year-old female
    Jefrey Salek
    Department of Medicine, University of Utah, Salt Lake City, UT 84132, USA
    Liver Transpl 16:1049-53. 2010
    ..Our case illustrates the importance of screening patients with idiopathic ALF for a metabolic disorder. A prompt diagnosis and timely treatment enabled her to recover fully without the need for liver transplantation...
  41. ncbi request reprint Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 130:88-91. 2004
    ..Our patient and the previously reported cases support a discrete recognizable phenotype for paternal UPD for chromosome 14...
  42. doi request reprint Developing a National Registry for conditions identifiable through newborn screening
    Jeffrey R Botkin
    Department of Pediatrics, Division of Medical Ethics, University of Utah, 2000 East 75 South 108, Salt Lake City, UT 84112, USA
    Genet Med 11:176-82. 2009
    ..This article provides an overview of the justification for such a system and recommendations for a design...
  43. ncbi request reprint Phenotype and genotype variation in primary carnitine deficiency
    Y Wang
    Division of Medical Genetics, Department of Pediatrics, Emory University, Atlanta, Georgia, USA
    Genet Med 3:387-92. 2001
    ..CONCLUSIONS: Heterogeneous mutations in the SLC22A5 gene cause primary carnitine deficiency. Different presentations are observed even in children with identical mutations...
  44. ncbi request reprint A missense mutation in the OCTN2 gene associated with residual carnitine transport activity
    Y Wang
    Division of Medical Genetics, Department of Pediatrics, Emory University, Atlanta, Georgia 30322, USA
    Hum Mutat 15:238-45. 2000
    ..These results indicate that primary carnitine deficiency can be caused by mutations encoding for carnitine transporters with residual activity, and that the E452K affects a domain not involved in carnitine recognition...
  45. ncbi request reprint Insulin increases the turnover rate of Na+-K+-ATPase in human fibroblasts
    N Longo
    Division of Medical Genetics, Department of Pediatrics, Emory University, 2040 Ridgewood Drive, Atlanta, GA 30322, USA
    Am J Physiol Cell Physiol 280:C912-9. 2001
    ..These results indicate that insulin increases the turnover rate of Na+-K+-ATPases of human fibroblasts without affecting their number on the plasma membrane or modifying their dependence on intracellular [Na+]...
  46. ncbi request reprint Role of arginine 86 of the insulin receptor in insulin binding and activation of glucose transport
    N Longo
    Department of Pediatrics, Emory University, Atlanta, GA 30322, USA
    Biochim Biophys Acta 1402:86-94. 1998
    ..Substitution with glycine allows insulin binding, but does not activate normally glucose transport, further supporting an essential role of this position in the initiation of insulin receptor signalling of glucose transport...
  47. ncbi request reprint Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria
    C Melissa Dobson
    Department of Biochemistry and Molecular Biology, University of Calgary, Canada
    Mol Genet Metab 88:327-33. 2006
    ..We conclude that the patient's MCEE defect was responsible for the mild methylmalonic aciduria, confirming a partial requirement for the enzymatic activity in humans...
  48. ncbi request reprint Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation
    Vito Iacobazzi
    Dipartimento Farmaco Biologico, University of Bari, Italy
    Am J Med Genet A 126:150-5. 2004
    ..These results suggest that carnitine and MCT may be effective in treating this defect of long-chain fatty acid oxidation...

Research Grants13

  1. CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2000
    ..This research will characterize mutations responsible for primary carnitine deficiency and clarify the function of a new class of membrane transporters whose alteration may cause other types of human diseases. ..
  2. THE CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2009
    ....
  3. THE CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2009
    ....
  4. Anaplerotic therapy in Propionic Acidemia
    Nicola Longo; Fiscal Year: 2007
    ..This approach, if effective, could be extended to a number of other diseases, including other organic acidemias and mitochondrial disorders. ..
  5. THE CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2007
    ....
  6. THE CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2006
    ....
  7. CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2003
    ..This research will characterize mutations responsible for primary carnitine deficiency and clarify the function of a new class of membrane transporters whose alteration may cause other types of human diseases. ..
  8. CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2001
    ..This research will characterize mutations responsible for primary carnitine deficiency and clarify the function of a new class of membrane transporters whose alteration may cause other types of human diseases. ..
  9. CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2002
    ..This research will characterize mutations responsible for primary carnitine deficiency and clarify the function of a new class of membrane transporters whose alteration may cause other types of human diseases. ..
  10. CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2001
    ..This research will characterize mutations responsible for primary carnitine deficiency and clarify the function of a new class of membrane transporters whose alteration may cause other types of human diseases. ..
  11. THE CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2010
    ....