Stefan Kölker

Summary

Affiliation: University of Heidelberg
Country: Germany

Publications

  1. doi request reprint The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
    Stefan Kölker
    Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children s Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany
    J Inherit Metab Dis 38:1059-74. 2015
  2. ncbi request reprint Contribution of reactive oxygen species to 3-hydroxyglutarate neurotoxicity in primary neuronal cultures from chick embryo telencephalons
    S Kolker
    Division of Metabolic and Endocrine Diseases, University Children s Hospital Heidelberg, DE 69120 Heidelberg, Germany
    Pediatr Res 50:76-82. 2001
  3. ncbi request reprint Looking forward--an evidence-based approach to glutaryl-CoA dehydrogenase deficiency
    S Kolker
    Department of General Pediatrics, Division of Metabolic and Endocrine Diseases, University Children s Hospital, D 69120 Heidelberg, Germany
    J Inherit Metab Dis 27:921-6. 2004
  4. ncbi request reprint Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency
    S Kolker
    Department of General Pediatrics, University Children s Hospital, D 69120 Heidelberg, Germany
    J Inherit Metab Dis 27:805-12. 2004
  5. ncbi request reprint Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency
    Stefan Kölker
    Division of Metabolic and Endocrine Diseases, University Children s Hospital, Heidelberg, Germany
    Ann Neurol 55:7-12. 2004
  6. ncbi request reprint Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain
    Stefan Kölker
    Department of General Pediatrics, Division of Metabolic and Endocrine Diseases, University Children s Hospital Heidelberg, D 69120 Heidelberg, Germany
    J Biol Chem 278:47388-93. 2003
  7. ncbi request reprint Challenges for basic research in glutaryl-CoA dehydrogenase deficiency
    S Kolker
    Department of General Pediatrics, Division of Metabolic and Endocrine Diseases, University Children s Hospital Heidelberg, D 69120 Heidelberg, Germany
    J Inherit Metab Dis 27:843-9. 2004
  8. ncbi request reprint Potentiation of 3-hydroxyglutarate neurotoxicity following induction of astrocytic iNOS in neonatal rat hippocampal cultures
    S Kolker
    Division of Metabolic and Endocrine Diseases, University Children s Hospital, Im Neuenheimer Feld 150, D 69120 Heidelberg, Germany
    Eur J Neurosci 13:2115-22. 2001
  9. ncbi request reprint 3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis
    S Kolker
    Division of Metabolic and Endocrine Diseases, University Children s Hospital, Heidelberg, Germany
    J Neurosci Res 66:666-73. 2001
  10. ncbi request reprint Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons
    Stefan Kölker
    Division of Metabolic and Endocrine Diseases, University Children s Hospital, Heidelberg, Germany
    Pediatr Res 52:199-206. 2002

Detail Information

Publications50

  1. doi request reprint The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
    Stefan Kölker
    Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children s Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany
    J Inherit Metab Dis 38:1059-74. 2015
    ..The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood...
  2. ncbi request reprint Contribution of reactive oxygen species to 3-hydroxyglutarate neurotoxicity in primary neuronal cultures from chick embryo telencephalons
    S Kolker
    Division of Metabolic and Endocrine Diseases, University Children s Hospital Heidelberg, DE 69120 Heidelberg, Germany
    Pediatr Res 50:76-82. 2001
    ....
  3. ncbi request reprint Looking forward--an evidence-based approach to glutaryl-CoA dehydrogenase deficiency
    S Kolker
    Department of General Pediatrics, Division of Metabolic and Endocrine Diseases, University Children s Hospital, D 69120 Heidelberg, Germany
    J Inherit Metab Dis 27:921-6. 2004
    ....
  4. ncbi request reprint Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency
    S Kolker
    Department of General Pediatrics, University Children s Hospital, D 69120 Heidelberg, Germany
    J Inherit Metab Dis 27:805-12. 2004
    ..Finally, maturation-dependent changes in the expression of neuronal glutamate receptors may affect the vulnerability of the immature brain to excitotoxic cell damage in this disease...
  5. ncbi request reprint Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency
    Stefan Kölker
    Division of Metabolic and Endocrine Diseases, University Children s Hospital, Heidelberg, Germany
    Ann Neurol 55:7-12. 2004
    ..Finally, maturation-dependent changes in the expression of neuronal glutamate receptors may affect the vulnerability to 3-hydroxyglutaric and glutaric acid toxicity...
  6. ncbi request reprint Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain
    Stefan Kölker
    Department of General Pediatrics, Division of Metabolic and Endocrine Diseases, University Children s Hospital Heidelberg, D 69120 Heidelberg, Germany
    J Biol Chem 278:47388-93. 2003
    ..Inhibition of respiratory chain and tricarboxylic acid cycle is most likely induced by synergistically acting alternative metabolites, in particular 2-methylcitric acid, malonic acid, and propionyl-CoA...
  7. ncbi request reprint Challenges for basic research in glutaryl-CoA dehydrogenase deficiency
    S Kolker
    Department of General Pediatrics, Division of Metabolic and Endocrine Diseases, University Children s Hospital Heidelberg, D 69120 Heidelberg, Germany
    J Inherit Metab Dis 27:843-9. 2004
    ....
  8. ncbi request reprint Potentiation of 3-hydroxyglutarate neurotoxicity following induction of astrocytic iNOS in neonatal rat hippocampal cultures
    S Kolker
    Division of Metabolic and Endocrine Diseases, University Children s Hospital, Im Neuenheimer Feld 150, D 69120 Heidelberg, Germany
    Eur J Neurosci 13:2115-22. 2001
    ..Thus, we provide evidence for a neuroimmunological approach to the precipitation of acute encephalopathic crises in GDD by inflammatory cytokines...
  9. ncbi request reprint 3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis
    S Kolker
    Division of Metabolic and Endocrine Diseases, University Children s Hospital, Heidelberg, Germany
    J Neurosci Res 66:666-73. 2001
    ..In conclusion, our results provide strong evidence that 3-UPA acts as endogenous neurotoxin via inhibition of mitochondrial energy metabolism, resulting in the initiation of secondary, energy-dependent excitotoxic mechanisms...
  10. ncbi request reprint Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons
    Stefan Kölker
    Division of Metabolic and Endocrine Diseases, University Children s Hospital, Heidelberg, Germany
    Pediatr Res 52:199-206. 2002
    ..In conclusion, the present study revealed that NMDA receptor activation and subsequent disturbance of Ca(2+) homeostasis contribute to 3-OH-GA-induced cell damage...
  11. ncbi request reprint Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons
    Stefan Kölker
    Division of Metabolic and Endocrine Diseases, University Children s Hospital, Heidelberg, Germany
    J Neurosci Res 68:424-31. 2002
    ....
  12. ncbi request reprint NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria
    Stefan Kölker
    Division of Metabolic and Endocrine Diseases, University Children s Hospital, Im Neuenheimer Feld 150, D 69120 Heidelberg, Germany
    Eur J Neurosci 16:21-8. 2002
    ..In conclusion, excitotoxicity contributes to the neuropathology of d-2-hydroxyglutaric aciduria, highlighting new neuroprotective strategies...
  13. pmc Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins
    Marina A Schwab
    Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children s Hospital Heidelberg, Im Neuenheimer Feld 150, D 69120 Heidelberg, Germany
    Biochem J 398:107-12. 2006
    ....
  14. ncbi request reprint Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity
    Jürgen G Okun
    Department of Pediatrics, Division of Metabolic and Endocrine Diseases, Im Neuenheimer Feld 150, Federal Republic of Germany
    J Biol Chem 277:14674-80. 2002
    ..We propose that neuropathogenesis of methylmalonic aciduria may involve an inhibition of complex II and the tricarboxylic acid cycle by accumulating toxic organic acids, and synergistic secondary excitotoxic mechanisms...
  15. ncbi request reprint Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A
    Sven W Sauer
    Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children s Hospital of Heidelberg, Im Neuenheimer Feld 150, D 69120 Heidelberg, Germany
    J Biol Chem 280:21830-6. 2005
    ..In conclusion, our results demonstrate that bioenergetic impairment may play an important role in the pathomechanisms underlying neurodegenerative changes in glutaryl-CoA dehydrogenase deficiency...
  16. ncbi request reprint Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency
    Sven W Sauer
    Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children s Hospital Heidelberg, Heidelberg, Germany
    J Neurochem 97:899-910. 2006
    ..In conclusion, we propose that an intracerebral de novo synthesis and subsequent trapping of GA and 3-OH-GA should be considered as a biochemical risk factor for neurodegeneration in GCDH deficiency...
  17. ncbi request reprint 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...
  18. doi request reprint Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters
    Nikolas Boy
    Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany
    J Inherit Metab Dis 36:525-33. 2013
    ..However, possible affection of linear growth, weight gain and biochemical follow-up monitoring has not been studied systematically...
  19. doi request reprint Glutaric aciduria type I and methylmalonic aciduria: simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood-brain barrier and the choroid plexus
    Sven W Sauer
    Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children s Hospital Heidelberg, D 69120 Heidelberg, Germany
    Biochim Biophys Acta 1802:552-60. 2010
    ..In conclusion, our results indicate a low but specific efflux transport for GA, 3-OH-GA, and MMA across pBCEC, an in vitro model of the BBB, via OAT1 and OAT3 but not across hCPEC, an in vitro model of the choroid plexus...
  20. ncbi request reprint Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts
    Marina A Schwab
    Division of Metabolic and Endocrine Diseases, University Children s Hospital Heidelberg, 69120 Heidelberg, Germany
    Clin Chem 51:151-60. 2005
    ..The most commonly used radiochemical method detects the formation of (14)CO(2), an endproduct of the E1 component of PDHc, from [1-(14)C]pyruvate...
  21. doi request reprint Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience
    Stefan Kölker
    Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany
    Mol Genet Metab 107:72-80. 2012
    ....
  22. ncbi request reprint Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders
    Andrea Schulze-Bergkamen
    Department of General Pediatrics, University Children s Hospital Heidelberg, 69120 Heidelberg, Germany
    Pediatr Res 58:873-80. 2005
    ..In conclusion, our assay allows biochemical confirmation of a number of FAOD and OAD and could easily be implemented into the confirmatory diagnostic work-up...
  23. pmc A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival
    Katharina Rauschenberger
    Institute of Human Genetics, Heidelberg University, Heidelberg, Germany
    EMBO Mol Med 2:51-62. 2010
    ..Therefore alternative therapeutic approaches to an isoleucine-restricted diet are required...
  24. ncbi request reprint Phenylalanine reduces synaptic density in mixed cortical cultures from mice
    Friederike Hörster
    Department of General Pediatrics, University of Children s Hospital, Heidelberg, Germany
    Pediatr Res 59:544-8. 2006
    ....
  25. doi request reprint The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
    Stefan Kölker
    Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children s Hospital Heidelberg, Im Neuenheimer Feld 430, D 69120, Heidelberg, Germany
    J Inherit Metab Dis 38:1041-57. 2015
    ..The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorders (UCD) is variable; symptoms are often non-specific...
  26. doi request reprint Use of guidelines improves the neurological outcome in glutaric aciduria type I
    Jana Heringer
    Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany
    Ann Neurol 68:743-52. 2010
    ..To evaluate the effect of treatment according to current evidence-based recommendations on the neurological outcome of patients with glutaric aciduria type I (GA-I)...
  27. doi request reprint Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
    Dagmar Jamiolkowski
    Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, D 69120, Heidelberg, Germany
    J Inherit Metab Dis 39:231-41. 2016
    ..So far, there is no systematic study of intellectual functioning, behavioural/emotional problems and health-related quality of life (HRQoL), and how these domains are connected...
  28. doi request reprint A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I
    Nikolas Boy
    Department of General Paediatrics, Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D 69120, Heidelberg, Germany
    Orphanet J Rare Dis 10:163. 2015
    ..Glutaric aciduria type I (GA-I) is an inherited metabolic disease due to deficiency of glutaryl-CoA dehydrogenase (GCDH). Cognitive functions are generally thought to be spared, but have not yet been studied in detail...
  29. doi request reprint Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I
    Sven W Sauer
    Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children s Hospital Heidelberg, D 69120 Heidelberg, Germany
    Biochim Biophys Acta 1852:768-77. 2015
    ..We found severe spongiosis in the hippocampus of Gcdh(-/-) mice which was independent of dietary L-lysine supply. In conclusion, the L-lysine-induced pathology in Gcdh(-/-) mice depends on genetic and dietary parameters...
  30. doi request reprint Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I
    Sven W Sauer
    Department of General Paediatrics, Division of Inborn Metabolic Diseases, University Children s Hospital, Im Neuenheimer Feld 430, D 69120 Heidelberg, Germany
    Brain 134:157-70. 2011
    ....
  31. ncbi request reprint Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany
    Stefan Kölker
    Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children s Hospital Heidelberg, D 69120 Heidelberg, Germany
    Pediatr Res 62:357-63. 2007
    ..No patient was known to be missed by newborn screening from 1999 to 2005. In conclusion, this study confirms that newborn screening for GCDH deficiency in combination with intensive management is beneficial...
  32. pmc Diagnosis and management of glutaric aciduria type I--revised recommendations
    Stefan Kölker
    Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children s Hospital, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany
    J Inherit Metab Dis 34:677-94. 2011
    ..The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline...
  33. doi request reprint Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I
    Inga Harting
    Department of Neuroradiology, University of Heidelberg, Heidelberg, Germany
    Brain 132:1764-82. 2009
    ..This may have widespread consequences for the pathophysiological understanding of this disease, long-term outcomes and therapeutic considerations...
  34. doi request reprint Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients
    Sven F Garbade
    SFG Faculty of Applied Psychology, SRH University of Applied Sciences, Heidelberg, Germany
    J Inherit Metab Dis 37:763-73. 2014
    ..The majority of untreated patients develops a complex movement disorder with predominant dystonia during age 3-36 months. Magnetic resonance imaging (MRI) studies have demonstrated striatal and extrastriatal abnormalities...
  35. doi request reprint Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?
    Tamaris Zwickler
    Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children s Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany
    J Inherit Metab Dis 35:797-806. 2012
    ....
  36. ncbi request reprint A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency
    Jürgen G Okun
    Division of Metabolic and Endocrine Diseases, Department of General Pediatrics, University Children s Hospital, Im Neuenheimer Feld 150, D 69120 Heidelberg, Germany
    Biochim Biophys Acta 1584:91-8. 2002
    ..In conclusion, this novel technique is a powerful tool for the investigation of fatty acid oxidation disorders under standardized conditions in fibroblasts...
  37. ncbi request reprint Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)
    Friederike Hörster
    Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children s Hospital, D 69120 Heidelberg, Germany
    Pediatr Res 62:225-30. 2007
    ..In addition, long-term outcome was dependent on the age cohort and cobalamin responsiveness...
  38. doi request reprint Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options
    Christian Staufner
    Department of General Pediatrics, Division of Pediatric Metabolic Medicine and Neuropediatrics, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany
    J Inherit Metab Dis 39:273-83. 2016
    ..Adenosine kinase deficiency is a recently described defect affecting methionine metabolism with a severe clinical phenotype comprising mainly neurological and hepatic impairment and dysmorphism...
  39. doi request reprint Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders-review and meta-analysis of observational studies published over more than 35 years
    Peter Burgard
    Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, D 69120, Heidelberg, Germany
    J Inherit Metab Dis 39:219-29. 2016
    ..We aimed to integrate available evidence to create benchmarks for new diagnostic and therapeutic strategies...
  40. doi request reprint (1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites
    Inga Harting
    Department of Neuroradiology, University of Heidelberg Medical Center, Im Neuenheimer Feld 400, D 69120, Heidelberg, Germany
    J Inherit Metab Dis 38:829-38. 2015
    ..Due to limited efflux across the blood-brain-barrier biochemical monitoring of intracerebrally accumulating toxic metabolites is as yet not possible...
  41. pmc Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis
    Johannes Pfeil
    Department of General Paediatrics, Division of Inherited Metabolic Diseases, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg 69120, Germany
    Orphanet J Rare Dis 8:167. 2013
    ..The aim of our study was therefore to assess the cost-effectiveness of newborn screening for GA-I by tandem mass spectrometry (MS/MS) compared to a scenario where GA-I is not included in the MS/MS screening panel...
  42. doi request reprint Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I
    Roland Posset
    Division of Inherited Metabolic Diseases, University Children s Hospital, Heidelberg, Germany
    J Inherit Metab Dis 38:265-72. 2015
    ..In conclusion, L-pipecolate is a major degradation product from L-lysine in murine brain generated by α-deamination of this amino acid...
  43. doi request reprint Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation
    Stefan Kölker
    Department of General Pediatrics, Division of Inherited Metabolic Diseases, Centre for Child and Adolescent Medicine, Clinic I, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany
    J Inherit Metab Dis 36:635-44. 2013
    ..More work is required to predict the risk and to elucidate the mechanism of late-onset organ dysfunction, extracerebral disease manifestation, and tumorigenesis. ..
  44. ncbi request reprint Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency
    Stefan Kölker
    Department of General Pediatric, University of Children s Hospital Heidelberg, D 69120 Heidelberg, Germany
    Pediatr Res 59:840-7. 2006
    ..Notably, the biochemical phenotype did not predict the clinical phenotype. Our study proves GCDH deficiency to be a treatable disorder and a good candidate for neonatal screening...
  45. doi request reprint Severe Acute Subdural Hemorrhage in a Patient With Glutaric Aciduria Type I After Minor Head Trauma: A Case Report
    Matthias Zielonka
    Division of Inherited Metabolic Diseases, Department of General Pediatrics, University Hospital Heidelberg, Heidelberg, Germany
    J Child Neurol 30:1065-9. 2015
    ....
  46. doi request reprint Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts
    Christian Staufner
    Department of General Pediatrics, Division of Neuropediatrics and Pediatric Metabolic Medicine, University Hospital Heidelberg, 69120, Heidelberg, Germany
    J Inherit Metab Dis 39:3-16. 2016
    ..Recently biallelic mutations in NBAS were identified as a new molecular cause of ALF with onset in infancy, leading to recurrent acute liver failure (RALF)...
  47. doi request reprint High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure
    Ulrike Teufel
    Department of General Pediatrics, University of Heidelberg, Heidelberg, Germany
    Pediatr Transplant 15:E110-5. 2011
    ..Patients should be managed in a center that has the capacity for an emergency liver transplantation...
  48. pmc Deorphanization of GPR109B as a receptor for the beta-oxidation intermediate 3-OH-octanoic acid and its role in the regulation of lipolysis
    Kashan Ahmed
    Institute of Pharmacology, University of Heidelberg, and Department of General Pediatrics, University Children s Hospital Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany
    J Biol Chem 284:21928-33. 2009
    ....
  49. doi request reprint Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases
    Darius Ebrahimi-Fakhari
    1 Division of Inherited Metabolic Diseases, Department of General Pediatrics, Heidelberg Children s Hospital, University Hospital Heidelberg, Ruprecht Karls University Heidelberg, Heidelberg, Germany 2 Institute of Anatomy and Cell Biology, Ruprecht Karls University Heidelberg, Heidelberg, Germany
    Pediatr Res 75:217-26. 2014
    ..To this end, an outlook on novel therapeutic approaches targeting autophagy concludes this review. ..
  50. doi request reprint Defects in amino acid catabolism and the urea cycle
    Georg F Hoffmann
    Department of General Pediatrics, University Children s Hospital Heidelberg, Heidelberg, Germany Electronic address
    Handb Clin Neurol 113:1755-73. 2013
    ..Successful treatment strategies are becoming increasingly available. They mostly require an experienced interdisciplinary team including a neuropediatrician and/or later on a neurologist...