Ina Knerr

Summary

Affiliation: University of Erlangen-Nuremberg
Country: Germany

Publications

  1. ncbi Endocrine effects of food intake: insulin, ghrelin, and leptin responses to a single bolus of essential amino acids in humans
    I Knerr
    Department of Paediatrics, University of Erlangen Nuremberg, Loschgestrasse 15, DE 91054 Erlangen, Germany
    Ann Nutr Metab 47:312-8. 2003
  2. ncbi Fusiogenic endogenous-retroviral syncytin-1 exerts anti-apoptotic functions in staurosporine-challenged CHO cells
    Ina Knerr
    Children and Youth Hospital, University of Erlangen Nuremberg, Loschgestr 15, D 91054, Erlangen, Germany
    Apoptosis 12:37-43. 2007
  3. ncbi Leptin and ghrelin expression in adipose tissues and serum levels in gastric banding patients
    I Knerr
    Children and Youth Hospital, University of Erlangen Nuremberg, Erlangen, Germany
    Eur J Clin Invest 36:389-94. 2006
  4. ncbi Transcriptional effects of hypoxia on fusiogenic syncytin and its receptor ASCT2 in human cytotrophoblast BeWo cells and in ex vivo perfused placental cotyledons
    Ina Knerr
    Department of Pediatrics, University of Erlangen Nuremberg, Erlangen, Germany
    Am J Obstet Gynecol 189:583-8. 2003
  5. ncbi Laparoscopically performed gastric banding in a 13 year-old girl with morbid obesity and end stage renal insufficiency allows lifesaving weight loss and hemodialysis
    I Knerr
    Department of Pediatrics, University of Erlangen Nuremberg, Germany
    J Pediatr Endocrinol Metab 16:1179-82. 2003
  6. ncbi Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA
    Ina Knerr
    Department of Pediatrics, University of Erlangen Nuremberg, Germany
    J Pediatr Hematol Oncol 25:948-51. 2003
  7. ncbi The 'accelerator hypothesis': relationship between weight, height, body mass index and age at diagnosis in a large cohort of 9,248 German and Austrian children with type 1 diabetes mellitus
    I Knerr
    University Children s Hospital, University of Erlangen Nuremberg, Loschgestr 15, 91054, Erlangen, Germany
    Diabetologia 48:2501-4. 2005
  8. pmc An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria
    Ina Knerr
    Children and Youth Hospital, University of Erlangen Nuremberg, Loschge Street 15, 91054 Erlangen, Germany
    BMC Pediatr 5:5. 2005
  9. ncbi Maturation of the expression of adrenomedullin, endothelin-1 and nitric oxide synthases in adipose tissues from childhood to adulthood
    I Knerr
    University Children s Hospital, University of Erlangen Nuremberg, Erlangen, Germany
    Int J Obes (Lond) 29:275-80. 2005
  10. ncbi Glutaric aciduria type III: a distinctive non-disease?
    I Knerr
    Department of Paediatrics, University of Erlangen Nuremberg, Erlangen, Germany
    J Inherit Metab Dis 25:483-90. 2002

Detail Information

Publications52

  1. ncbi Endocrine effects of food intake: insulin, ghrelin, and leptin responses to a single bolus of essential amino acids in humans
    I Knerr
    Department of Paediatrics, University of Erlangen Nuremberg, Loschgestrasse 15, DE 91054 Erlangen, Germany
    Ann Nutr Metab 47:312-8. 2003
    ..This study deals with the physiological effects of an oral bolus of essential amino acids (AA) on the secretion of insulin, ghrelin and leptin in fasting humans...
  2. ncbi Fusiogenic endogenous-retroviral syncytin-1 exerts anti-apoptotic functions in staurosporine-challenged CHO cells
    Ina Knerr
    Children and Youth Hospital, University of Erlangen Nuremberg, Loschgestr 15, D 91054, Erlangen, Germany
    Apoptosis 12:37-43. 2007
    ..Our study provides first evidence that syncytin-1 serves anti-apoptotic function under certain conditions. A lessened activation of caspase 3 and an increased expression of Bcl-2 are possible mechanisms...
  3. ncbi Leptin and ghrelin expression in adipose tissues and serum levels in gastric banding patients
    I Knerr
    Children and Youth Hospital, University of Erlangen Nuremberg, Erlangen, Germany
    Eur J Clin Invest 36:389-94. 2006
    ..To determine how leptin and ghrelin are expressed in the adipose tissues of obese adults undergoing gastric banding (LAGB), and to correlate tissue expression with serum concentrations and parameters of the metabolic syndrome...
  4. ncbi Transcriptional effects of hypoxia on fusiogenic syncytin and its receptor ASCT2 in human cytotrophoblast BeWo cells and in ex vivo perfused placental cotyledons
    Ina Knerr
    Department of Pediatrics, University of Erlangen Nuremberg, Erlangen, Germany
    Am J Obstet Gynecol 189:583-8. 2003
    ....
  5. ncbi Laparoscopically performed gastric banding in a 13 year-old girl with morbid obesity and end stage renal insufficiency allows lifesaving weight loss and hemodialysis
    I Knerr
    Department of Pediatrics, University of Erlangen Nuremberg, Germany
    J Pediatr Endocrinol Metab 16:1179-82. 2003
    ..However, little information is available on gastric banding in children...
  6. ncbi Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA
    Ina Knerr
    Department of Pediatrics, University of Erlangen Nuremberg, Germany
    J Pediatr Hematol Oncol 25:948-51. 2003
    ..371 to 14.607...
  7. ncbi The 'accelerator hypothesis': relationship between weight, height, body mass index and age at diagnosis in a large cohort of 9,248 German and Austrian children with type 1 diabetes mellitus
    I Knerr
    University Children s Hospital, University of Erlangen Nuremberg, Loschgestr 15, 91054, Erlangen, Germany
    Diabetologia 48:2501-4. 2005
    ..The aim of this study was to investigate whether either increased weight or BMI are associated with the earlier manifestation of type 1 diabetes mellitus in children...
  8. pmc An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria
    Ina Knerr
    Children and Youth Hospital, University of Erlangen Nuremberg, Loschge Street 15, 91054 Erlangen, Germany
    BMC Pediatr 5:5. 2005
    ..The maternal phenylketonuria syndrome is caused by high blood phenylalanine concentrations during pregnancy and presents with serious foetal anomalies, especially congenital heart disease, microcephaly and mental retardation...
  9. ncbi Maturation of the expression of adrenomedullin, endothelin-1 and nitric oxide synthases in adipose tissues from childhood to adulthood
    I Knerr
    University Children s Hospital, University of Erlangen Nuremberg, Erlangen, Germany
    Int J Obes (Lond) 29:275-80. 2005
    ..To investigate if the vasoactive systems adrenomedullin (ADM) and endothelin-1 (ET-1) are expressed in human adipose tissues in children and in adults and to determine the distribution pattern of nitric oxide synthases (NOS)...
  10. ncbi Glutaric aciduria type III: a distinctive non-disease?
    I Knerr
    Department of Paediatrics, University of Erlangen Nuremberg, Erlangen, Germany
    J Inherit Metab Dis 25:483-90. 2002
    ..Glutaric aciduria type III appears to be a rare metabolic abnormality, presumably of peroxisomal metabolism. However, its pathophysiological impact still needs further investigation...
  11. ncbi Prevailing therapeutic regimes and predictive factors for prandial insulin substitution in 26 687 children and adolescents with Type 1 diabetes in Germany and Austria
    I Knerr
    University Children s Hospital, University of Erlangen Nuremberg, Germany
    Diabet Med 24:1478-81. 2007
    ..To analyse current therapeutic strategies for prandial insulin substitution in a large number of children and adolescents with Type 1 diabetes in Germany and Austria, along with changes in therapeutic habits and outcome...
  12. ncbi [Early factors influencing body weight and prevalence of overweight in 4610 children prior to school entry in the Erlangen District (Northern Bavaria)]
    I Knerr
    Kinder und Jugendklinik des Universitätsklinikums Erlangen, Friedrich Alexander Universitat Erlangen Nurnberg
    Gesundheitswesen 67:183-8. 2005
    ..We tested other parameters influencing childhood obesity, and hypothesized that within a 5-year interval the prevalence of obesity in children has increased significantly...
  13. ncbi Adrenomedullin, calcitonin gene-related peptide and their receptors: evidence for a decreased placental mRNA content in preeclampsia and HELLP syndrome
    Ina Knerr
    Department of Pediatrics, University of Erlangen Nuremberg, Erlangen, Germany
    Eur J Obstet Gynecol Reprod Biol 101:47-53. 2002
    ..These are severe maternal conditions leading to an altered uteroplacental and fetoplacental perfusion and a higher risk for foetal growth retardation, premature delivery, infant mortality, and even maternal death...
  14. ncbi Stimulation of GCMa and syncytin via cAMP mediated PKA signaling in human trophoblastic cells under normoxic and hypoxic conditions
    Ina Knerr
    University Hospital for Children and Adolescents, University of Erlangen Nuremberg, Germany
    FEBS Lett 579:3991-8. 2005
    ..We propose that GCMa-driven syncytin expression is the key mechanism for syncytiotrophoblast formation...
  15. ncbi Differential regulation of leptin synthesis in rats during short-term hypoxia and short-term carbon monoxide inhalation
    Udo Meissner
    Department of Pediatrics, University of Erlangen Nurnberg, 91054 Erlangen, Germany
    Endocrinology 146:215-20. 2005
    ..Inhalation of CO leads to a significant decrease in leptin mRNA and protein concentration in the plasma of the animals, suggesting a negative effect of CO on leptin transcription...
  16. doi Childhood obesity: concept, feasibility, and interim results of a local group-based, long-term treatment program
    Corina Weigel
    Children s and Adolescents Hospital, University of Erlangen Nuremberg, Germany
    J Nutr Educ Behav 40:369-73. 2008
    ..The authors compared this program with a control approach based on the patients' own initiative...
  17. doi Response of HEK293 and CHO cells overexpressing fusiogenic syncytin-1 to mitochondrion-mediated apoptosis induced by antimycin A
    Ina Knerr
    Children s and Adolescents Hospital, University of Erlangen Nuremberg, Erlangen, Germany
    J Cell Biochem 105:766-75. 2008
    ..A reduced release of cytochrome c followed by a diminished activation of caspase 9 is a possible mechanism...
  18. doi Leptin expression in primary trophoblast cells in response to incubation with the serum of preeclamptic women
    Robert M Spranger
    Department of Pediatrics and Adolescent Medicine, University of Erlangen Nuernberg, Erlangen, Germany
    Hypertens Pregnancy 27:267-77. 2008
    ..We investigated whether the increase of leptin expression in preeclamptic placentas is additionally influenced by soluble maternal factors under hypoxic and nonhypoxic conditions...
  19. doi Tracking and prediction of arterial blood pressure from childhood to young adulthood in 868 patients with type 1 diabetes: a multicenter longitudinal survey in Germany and Austria
    Ina Knerr
    Children s and Adolescents Hospital, University of Erlangen Nuremberg, D 91054 Erlangen, Germany
    Diabetes Care 31:726-7. 2008
    ..Arterial blood pressure was followed in 868 patients with type 1 diabetes aged 6.0-19.9 years in 95 centers in Germany and Austria...
  20. ncbi Endocrine responses to the oral ingestion of a physiological dose of essential amino acids in humans
    M Groschl
    Department of Paediatrics, Friedrich Alexander Universität Erlangen Nuremberg, Germany
    J Endocrinol 179:237-44. 2003
    ..The endocrine data provided in this study indicate that a single bolus of essential AA in fasted individuals is associated with both anabolic and catabolic hormonal responses...
  21. ncbi Syncytin, a novel human endogenous retroviral gene in human placenta: evidence for its dysregulation in preeclampsia and HELLP syndrome
    Ina Knerr
    Department of Pediatrics, University of Erlangen Nuremberg, Germany
    Am J Obstet Gynecol 186:210-3. 2002
    ..We tested the hypothesis of whether the gene expression of syncytin may be altered in cases with placental dysfunction such as preeclampsia or HELLP (hemolysis, elevated liver enzymes, low platelets) syndrome...
  22. ncbi Nitric oxide increases adrenomedullin receptor function in rat mesangial cells
    Jorg Dotsch
    Klinik fur Kinder und Jugendliche, and Medizinische Klinik IV, Friedrich Alexander University Erlangen, Erlangen, Germany
    Kidney Int 61:1707-13. 2002
    ..In contrast, nitric oxide (NO) is capable of exerting both cytoprotective and cytotoxic actions. It was the objective of the present study to examine whether NO stimulates the ADM system...
  23. ncbi Increase of endothelial nitric oxide synthase and endothelin-1 mRNA expression in human placenta during gestation
    J Dotsch
    Department of Pediatrics, University of Erlangen Nurnberg, Loschgestrasse 15, 91054, Erlangen, Germany
    Eur J Obstet Gynecol Reprod Biol 97:163-7. 2001
    ..To investigate the maturation of the paracrine system's endothelial nitric oxide synthase (eNOS), inducible NOS (iNOS), endothelin-1 (ET-1) and adrenomedullin (AM) in human placenta during the 2nd and 3rd trimester of pregnancy...
  24. doi Expression of neuropeptide Y, omentin and visfatin in visceral and subcutaneous adipose tissues in humans: relation to endocrine and clinical parameters
    Stephanie Barth
    Children s and Adolescents Hospital, University of Erlangen Nuremberg, Erlangen, Germany
    Obes Facts 3:245-51. 2010
    ..We aimed at exploring the expression of neuropeptide Y (NPY), omentin and visfatin in adipose tissues of adults along with clinical parameters and hormones...
  25. ncbi Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11)
    Martin Zenker
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Germany
    Am J Med Genet A 132:185-8. 2005
    ..This report emphasizes the importance of chromosome analysis in any female manifesting severe OTC deficiency...
  26. doi Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome
    Christian T Thiel
    Institute of Human Genetics, Friedrich Alexander University of Erlangen Nuremberg, Schwabachanlage 10, D 91054 Erlangen, Germany
    Mol Genet Metab 94:356-62. 2008
    ..Our data indicate that the quality of insulin binding activity is correlated with survival, not with the dysmorphic phenotype, and it is not always a valid parameter for predicting INSR mutations as proposed...
  27. ncbi Homocysteine concentrations in a German cohort of 500 individuals: reference ranges and determinants of plasma levels in healthy children and their parents
    M Rauh
    University Children s Hospital, Friedrich Alexander University, Erlanen Nuermberg, Erlangen, Federal Republic of Germany
    Amino Acids 20:409-18. 2001
    ..Genetic and nutritional factors are determinants of Hcys metabolism. The correlation of Hcys and serum creatinine is dependent on the metabolic link between Hcys production and creatine synthesis...
  28. ncbi Endogenous retroviral syncytin: compilation of experimental research on syncytin and its possible role in normal and disturbed human placentogenesis
    I Knerr
    University Children s Hospital, University of Erlangen Nuremberg, Erlangen, Germany
    Mol Hum Reprod 10:581-8. 2004
    ..We evaluate the hypothesis that syncytin is essential for human placenta formation and may also have played an important role in human placental evolution...
  29. ncbi Effects of various dietary amino acid preparations for phenylketonuric patients on the metabolic profiles along with postprandial insulin and ghrelin responses
    C Weigel
    Children and Youth Hospital, University of Erlangen Nurnberg, Erlangen, Germany
    Ann Nutr Metab 51:352-8. 2007
    ..We investigated the metabolic profiles along with insulin and ghrelin responses following ingestion of various amino acid (AA) substitutes commonly used in the treatment of phenylketonuria to study the effects of added macronutrients...
  30. ncbi Does defective hypoxia signalling cause type 2 diabetes?
    Jorg Dotsch
    Department of Pediatrics, Friedrich Alexander University Erlangen Nuremberg, Loschgestrasse 15, 91054 Erlangen, Germany
    Eur J Endocrinol 154:781-2. 2006
  31. ncbi Transient insulin-dependent diabetes mellitus in children with steroid-dependent idiopathic nephrotic syndrome during tacrolimus treatment
    Katalin Dittrich
    Children and Adolescent Hospital, University of Erlangen Nurnberg, Loschgestrasse 15, 91054, Erlangen, Germany
    Pediatr Nephrol 21:958-61. 2006
    ..Moreover, Tac does not appear to substantially increase the success of treatment...
  32. doi Syncytin-1 and glial cells missing a: hypoxia-induced deregulated gene expression along with disordered cell fusion in primary term human trophoblasts
    C Wich
    Children s and Adolescents Hospital, University of Erlangen Nuremberg, Erlangen, Germany
    Gynecol Obstet Invest 68:9-18. 2009
    ..We investigated how different levels of hypoxia alter the expression of syncytin-1, glial cells missing a (GCMa) and syncytin-1 receptor ASCT2 and affect syncytialization in primary term human trophoblasts...
  33. ncbi Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: a unique case of gamma-hydroxybutyric aciduria and Williams syndrome
    Ina Knerr
    Children s and Adolescents Hospital, University of Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet B Neuropsychiatr Genet 144:946-8. 2007
    ....
  34. ncbi Leptin and neuropeptide Y gene expression in human placenta: ontogeny and evidence for similarities to hypothalamic regulation
    J Dotsch
    Universitätsklinik für Kinder und Jugendliche, Erlangen, Germany
    J Clin Endocrinol Metab 84:2755-8. 1999
    ..Our data suggest an increase of placental leptin production with gestational age. In patients with preeclampsia, elevated leptin expression goes along with suppressed NPY expression. This resembles hypothalamic regulation...
  35. ncbi Increased endothelin-1 and decreased adrenomedullin gene expression in the stenotic tissue of congenital pelvi-ureteric junction obstruction in children
    I Knerr
    Department of Paediatrics, Friedrich-Alexander University, Erlangen, Germany
    BJU Int 87:667-71. 2001
    ....
  36. ncbi Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity
    Ronny Jung
    Children and Youth Hospital, University of Erlangen Nuremberg, Erlangen, Germany
    Mol Genet Metab 88:256-60. 2006
    ..In summary, we report the first patient with the exceptional rare findings of both SSADH deficiency and partial WAGR/WAGRO syndrome...
  37. ncbi Levothyroxine in euthyroid autoimmune thyroiditis and type 1 diabetes: a randomized, controlled trial
    Beate Karges
    Division of Pediatric Endocrinology and Diabetes, University Children s Hospital, University of Ulm, Eythstrasse 24, D 89075 Ulm, Germany
    J Clin Endocrinol Metab 92:1647-52. 2007
    ..Patients with type 1 diabetes (T1D) have an increased risk of autoimmune thyroiditis (AIT)...
  38. ncbi Course of placental 11beta-hydroxysteroid dehydrogenase type 2 and 15-hydroxyprostaglandin dehydrogenase mRNA expression during human gestation
    E Schoof
    Department of Pediatrics, University of Erlangen-Nuremberg, Germany
    Eur J Endocrinol 145:187-92. 2001
    ..11beta-HSD2 up-regulation may also lead to an increase in PGDH mRNA concentrations that, until term, possibly delays myometrial contractions induced by prostaglandins...
  39. ncbi Alteration of neuronal and endothelial nitric oxide synthase and neuropeptide Y in congenital ureteropelvic junction obstruction
    I Knerr
    Department of Pediatrics, , Germany
    Urol Res 29:134-40. 2001
    ..CONCLUSION: Taken together, we found alterations in NOS gene expression and NPY innervation in tissue specimens of patients with congenital ureteropelvic junction obstruction...
  40. doi Carnitine status in early-treated children, adolescents and young adults with phenylketonuria on low phenylalanine diets
    C Weigel
    Children s and Adolescents Hospital, University of Erlangen Nuremberg, Erlangen, Germany
    Ann Nutr Metab 53:91-5. 2008
    ..In patients with phenylketonuria (PKU), the carnitine status may be impaired for metabolic or dietary reasons, including low carnitine intake, a deficient synthesis and acylcarnitine production from phenylalanine (Phe) metabolites...
  41. ncbi Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid
    I Knerr
    Children s and Adolescents Hospital, University of Erlangen Nuremberg, Erlangen, Germany
    J Inherit Metab Dis 30:279-94. 2007
    ....
  42. doi Reduced frequency of peripheral plasmacytoid dendritic cells in type 1 diabetes
    C Hinkmann
    Department of Medicine 1, Friedrich Alexander University Erlangen Nurnberg, Erlangen, Germany
    Horm Metab Res 40:767-71. 2008
    ..Since pDCs are involved in the control of immune responses and inducing regulatory cells, a reduced number of pDCs may predispose to an autoimmune reaction in the pancreatic islets...
  43. ncbi Congenital unilateral ureteropelvic junction obstruction of the rat: a useful animal model for human ureteropelvic junction obstruction?
    Joerg Miller
    Department of Urology, Justus Liebig University of Giessen, Giessen, Germany
    Urology 63:190-4. 2004
    ..Our study group has recently been able to demonstrate a significant increase in ET-1 and a significant decrease in ADM in prestenotic and stenotic tissue, but not in the remainder of the ureter, compared with controls...
  44. ncbi Characterization of monocyte-derived dendritic cells in recent-onset diabetes mellitus type 1
    Thorsten Zacher
    Institute for Clinical Immunology, Department of Medicine III, University of Erlangen Nuremberg, Krankenhausstrasse 12, D 91054 Erlangen, Germany
    Clin Immunol 105:17-24. 2002
    ..In conclusion, our analysis of a cohort of recent-onset DM-1 patients and controls does not support a role for disease-related alterations in cytokine-driven maturation of monocyte-derived DC...
  45. ncbi [Obesity and the metabolic syndrome in children and adolescents]
    Ina Knerr
    Universitäts Kinderklinik Erlangen
    MMW Fortschr Med 146:41-3. 2004
    ....
  46. pmc Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients
    Ina Knerr
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine, Washington, DC, USA
    CNS Spectr 13:598-605. 2008
    ..While neurological manifestations, such as developmental delay, are typical during infancy, limited data are available on adolescent and adult symptomatology...
  47. ncbi Delayed menarche in young German women with type 1 diabetes mellitus: recent results from the DPV diabetes documentation and quality management system
    Tilman Rohrer
    Department of Pediatric and Adolescent Medicine, Pediatric Diabetes Unit, Saarland University Hospital, Homburg, Saar, Germany
    Eur J Pediatr 167:793-9. 2008
    ..Findings have been inconsistent regarding the effect of T1DM (type 1 diabetes) on age at menarche...
  48. pmc bZIP-Type transcription factors CREB and OASIS bind and stimulate the promoter of the mammalian transcription factor GCMa/Gcm1 in trophoblast cells
    Steffen Wolfgang Schubert
    Institut fur Biochemie, Emil Fischer Zentrum, Kinder und Jugendklinik and Nikolaus Fiebiger Zentrum, Universitat Erlangen Nurnberg, Fahrstrasse 17, D 91054 Erlangen, Germany
    Nucleic Acids Res 36:3834-46. 2008
    ..Further, we show that CREB expression is replaced by OASIS expression around E12.5 suggesting that a sequential order of bZIP-type family members ensures a high rate of GCMa transcription throughout placentation...
  49. ncbi Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients
    Hong Zhi Gao
    Department of Biochemistry, Faculty of Medicine, Kagoshima University, Kagoshima, Japan
    Hum Mutat 22:24-34. 2003
    ....
  50. ncbi Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
    Sonja C Stadler
    Research Center, Department of Biochemical Genetics and Molecular Biology, Dr von Hauner Children s Hospital, Ludwig Maximilians University, Munich, Germany
    Hum Mutat 27:748-59. 2006
    ..MCCD may be regarded as exemplary of the ongoing controversy arising from the inclusion of potentially asymptomatic conditions, which generates a psychological burden for afflicted families and a financial burden for health care systems...
  51. doi Ketogenic diet: stoking energy stores and still posing questions
    Ina Knerr
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine, Washington, DC 20010, USA
    Exp Neurol 211:11-3. 2008
  52. ncbi Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening
    Uta Nennstiel-Ratzel
    Screening Center of the Bavarian Health and Food Safety Authority, Oberschleissheim, Germany
    Mol Genet Metab 85:157-9. 2005
    ..Logrank test showed a significant reduction of severe metabolic crises in the screened cohort (p<0.01). Neonatal screening appears to reduce the rate of severe metabolic crisis or death in the most prevalent subset of MCADD...