Georg F Hoffmann

Summary

Affiliation: University of Heidelberg
Country: Germany

Publications

  1. ncbi Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia
    Georg F Hoffmann
    Department of Pediatrics, University of Heidelberg, Heidelberg, Germany
    Ann Neurol 54:S56-65. 2003
  2. ncbi Acrodermatitis acidaemia secondary to 'overtreatment' and protein deficiency
    G F Hoffmann
    University Childrens Hospital Heidelberg, Heidelberg, Germany
    J Inherit Metab Dis 29:173-4. 2006
  3. ncbi 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
  4. 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
  5. ncbi 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
  6. ncbi 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
  7. ncbi 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
  8. ncbi Atypical case of Aicardi-Goutières syndrome with late-onset myoclonic status
    Andrea Berger
    Centre of Epileptology, Paediatric Neurology, Kehl Kork, Germany
    Epileptic Disord 9:140-4. 2007
  9. 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
  10. ncbi Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome
    Dorothea Haas
    Department of General Pediatrics, University Children s Hospital Heidelberg, Im Neuenheimer Feld 150, D 69120 Heidelberg, Germany
    Orphanet J Rare Dis 1:13. 2006

Detail Information

Publications83

  1. ncbi Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia
    Georg F Hoffmann
    Department of Pediatrics, University of Heidelberg, Heidelberg, Germany
    Ann Neurol 54:S56-65. 2003
    ..Investigations of neurotransmitter defects by specific cerebrospinal fluid determinations should be included in the diagnostic evaluation of children with progressive infantile encephalopathy...
  2. ncbi Acrodermatitis acidaemia secondary to 'overtreatment' and protein deficiency
    G F Hoffmann
    University Childrens Hospital Heidelberg, Heidelberg, Germany
    J Inherit Metab Dis 29:173-4. 2006
  3. ncbi 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...
  4. 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
    ....
  5. ncbi 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
    ....
  6. ncbi 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)...
  7. ncbi 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...
  8. ncbi Atypical case of Aicardi-Goutières syndrome with late-onset myoclonic status
    Andrea Berger
    Centre of Epileptology, Paediatric Neurology, Kehl Kork, Germany
    Epileptic Disord 9:140-4. 2007
    ..Clinical deterioration occurred later, and at the age of 17 years he experienced severe, generalized, myoclonic attacks lasting hours, which were partly controlled by the administration of piracetam.[Published with video sequences]...
  9. 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...
  10. ncbi Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome
    Dorothea Haas
    Department of General Pediatrics, University Children s Hospital Heidelberg, Im Neuenheimer Feld 150, D 69120 Heidelberg, Germany
    Orphanet J Rare Dis 1:13. 2006
    ..Genetic counseling should be offered to families at risk. There is no established successful treatment for MVA. Simvastatin, an inhibitor of HMG-CoA reductase, and anakinra have been shown to have beneficial effect in HIDS...
  11. ncbi 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...
  12. ncbi Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry
    Susen Hartmann
    Division of Metabolic Diseases, Department of General Pediatrics, University Children s Hospital Heidelberg, Heidelberg, Germany
    Clin Chem 52:1127-37. 2006
    ..We present a method that allows comprehensive, sensitive, and specific diagnosis of the entire spectrum of abnormalities in purine and pyrimidine metabolism in 1 analytical run...
  13. ncbi Monitoring of intraportal liver cell application in children
    Jochen Meyburg
    Department of General Pediatrics, University Children s Hospital, Heidelberg, Germany
    Cell Transplant 19:629-38. 2010
    ..Time courses for changes in PVF, PVP, and liver enzymes were obtained. Thorough monitoring of portal vein pressure and duplex sonography according to a defined protocol is likely to increase safety of cell application in pediatric LCT...
  14. ncbi Liver transplantation for inborn errors of metabolism
    Jochen Meyburg
    Department of General Pediatrics, Division of Metabolic and Endocrine Diseases, University Children s Hospital, Heidelberg, Germany
    Transplantation 80:S135-7. 2005
    ..In most hepatic-based metabolic disorders, restoration of only about 10% of the original enzyme activity is sufficient to warrant sufficient metabolic control...
  15. ncbi 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...
  16. ncbi 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...
  17. ncbi Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism
    Sven Wolfgang Sauer
    Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children s Hospital, Heidelberg, Germany
    Biochim Biophys Acta 1777:1276-82. 2008
    ....
  18. ncbi 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
    ....
  19. ncbi Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population
    Olaf Sommerburg
    Division of Paediatric Pulmonology and Allergy and Cystic Fibrosis Center, Department of Paediatrics III, University of Heidelberg, Im Neuenheimer Feld 430, Heidelberg, Germany
    J Inherit Metab Dis 33:S263-71. 2010
    ....
  20. ncbi Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values
    Thomas Opladen
    Division of Inherited Metabolic Diseases, University Children s Hospital Heidelberg, Heidelberg, Germany
    J Inherit Metab Dis 33:697-703. 2010
    ..The objectives of this study were to determine the value of phenylalanine (Phe) loading for diagnosing dopa-responsive dystonia (DRD) in children...
  21. ncbi Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting
    Martin Lindner
    University Children s Hospital, Heidelberg, Germany
    J Inherit Metab Dis 33:521-6. 2010
    ..As a final conclusion, the accumulated evidence suggests all FAOD should to be included into tandem mass spectrometry (MS/MS)-based NBS programs provided sufficient laboratory performance is guaranteed...
  22. ncbi Liver, liver cell and stem cell transplantation for the treatment of urea cycle defects
    Jochen Meyburg
    Department of General Pediatrics, University Children s Hospital, Heidelberg, Germany
    Mol Genet Metab 100:S77-83. 2010
    ..However, a clear proof of principle in animal models of human metabolic disease is still missing, which is the prerequisite for clinical application in humans...
  23. ncbi Principles of pediatric emergency care
    Jochen Meyburg
    Abteilung Allgemeine Pädiatrie, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Heidelberg, Germany
    Dtsch Arztebl Int 106:739-47; quiz 748. 2009
    ..Children account for only a small percentage of pre-hospital emergency patients but are a special challenge for the treating physician...
  24. ncbi Liver cell transplantation in children
    Jochen Meyburg
    Department of General Paediatrics, University Children s Hospital, Heidelberg, Germany
    Clin Transplant 23:75-82. 2009
    ..Nevertheless, these individual therapeutic attempts of LCT yielded encouraging results, and prospective studies should be initiated...
  25. ncbi Relevance of allosteric conformations and homocarnosine concentration on carnosinase activity
    Verena Peters
    Division of Metabolic Diseases, University Children s Hospital, Heidelberg, Germany
    Amino Acids 38:1607-15. 2010
    ..Homocarnosine treatment can be expected to reduce CN1 activity toward carnosine, resulting in higher carnosine levels...
  26. ncbi Liver cell transplantation: basic investigations for safe application in infants and small children
    Jochen Meyburg
    Department of General Pediatrics, University Children s Hospital, 69120 Heidelberg, Germany
    Cell Transplant 18:777-86. 2009
    ..We conclude that especially with the use of small catheters, human LCT should be safe and efficient even in small infants and neonates...
  27. ncbi A new pediatric liver transplantation program in Southern Germany. The Heidelberg experience
    Guido Engelmann
    Department of Pediatrics, University Hospital, Heidelberg, Germany
    Pediatr Transplant 14:12-8. 2010
    ..In the pilot phase, small children and infants have to be referred and transplanted in an established center. An interdisciplinary team of specialists closely working together is the key for sustained success...
  28. ncbi One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects
    Jochen Meyburg
    Department of General Pediatrics, University Children s Hospital, Heidelberg, Germany
    Transplantation 87:636-41. 2009
    ..They are promising target diseases for liver cell transplantation (LCT), which may be a less invasive alternative or supplementation to orthotopic liver transplantation...
  29. ncbi Plasma and thrombocyte levels of coenzyme Q10 in children with Smith-Lemli-Opitz syndrome (SLOS) and the influence of HMG-CoA reductase inhibitors
    Dorothea Haas
    Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany
    Biofactors 32:191-7. 2008
    ..The aim of this study was to analyse plasma and intracellular CoQ10 levels in SLOS patients and to determine the influence of HMG-CoA reductase inhibitors...
  30. ncbi 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
    ....
  31. ncbi 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...
  32. ncbi Acylcarnitine profiles of preterm infants over the first four weeks of life
    Jochen Meyburg
    Department of Neonatology, Division of Metabolic and Endocrine Diseases, University Children s Hospital, Im Neuenheimer Feld 150, 69120 Heidelberg, Germany
    Pediatr Res 52:720-3. 2002
    ..However, the commonly used metabolite ratios should still allow the detection of inborn errors of metabolism...
  33. ncbi Lack of creatine in muscle and brain in an adult with GAMT deficiency
    Andreas Schulze
    Division of Metabolic and Endocrine Diseases, Department of General Pediatrics, University Children s Hospital, Heidelberg, Germany
    Ann Neurol 53:248-51. 2003
    ....
  34. ncbi 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...
  35. 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
    ....
  36. ncbi 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...
  37. ncbi 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...
  38. ncbi Accurate measurement of free carnitine in dried blood spots by isotope-dilution electrospray tandem mass spectrometry without butylation
    Andreas Schulze
    Division of Metabolic and Endocrine Diseases, Department of General Pediatrics, University Children s Hospital, Im Neuenheimer Feld 153, D 69120 Heidelberg, Germany
    Clin Chim Acta 335:137-45. 2003
    ..To test the feasibility of free carnitine (FC) determination in dried blood spot specimens (DBS) by stable isotope-dilution electrospray-ionisation tandem mass spectrometry (MS/MS)...
  39. ncbi 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
    ....
  40. ncbi Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria
    Andreas Schulze
    Division of Metabolic and Endocrine Diseases, University Children s Hospital, Im Neuenheimer Feld 150, 69120, Heidelberg, Germany
    Clin Chim Acta 317:27-37. 2002
    ..The aim of this study was to evaluate an enzymatic phenylalanine (Phe) determination in the whole context spanning from the initial investigation over the recall period, up to the confirmation or exclusion of the disease...
  41. ncbi 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...
  42. ncbi Mutations in the AUH gene cause 3-methylglutaconic aciduria type I
    T B Nga Ly
    Department of General Paediatrics, Ruprecht Karls University, Heidelberg, Germany
    Hum Mutat 21:401-7. 2003
    ..Further work is required to identify external or genetic factors associated with development of clinical problems in patients with MGA1...
  43. ncbi Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany
    Georg F Hoffmann
    Department of Paediatrics, University of Heidelberg, Germany
    Eur J Pediatr 163:76-80. 2004
    ..These conditions were related to considerable morbidity and mortality. Considerations for their inclusion in expanded newborn screening programmes might be warranted...
  44. ncbi Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance
    Peter Burgard
    Department of Paediatrics, University Hospital Heidelberg DE, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany
    J Inherit Metab Dis 35:613-25. 2012
    ..g. geneticists, clinical nurse specialists, psychologists). Registry-based evaluation of long-term outcome is as yet almost nonexistent (3 %)...
  45. ncbi 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...
  46. ncbi Mevalonate kinase deficiency and autoinflammatory disorders
    Dorothea Haas
    Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Hospital for Pediatric and Adolescent Medicine, Heidelberg, Germany
    N Engl J Med 356:2671-3. 2007
  47. ncbi 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...
  48. ncbi Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany
    Martin Lindner
    Centre for Paediatric and Adolescent Medicine, University Heidelberg, Heidelberg, Germany
    Orphanet J Rare Dis 6:44. 2011
    ..However, systematic evaluations of newborn screening programmes are rare, most often only describing parts of the whole process from taking blood samples to long-term evaluation of outcome...
  49. ncbi The molecular basis of phenylalanine hydroxylase deficiency in Croatia
    Johannes Zschocke
    Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
    Hum Mutat 21:399. 2003
    ..This is the first comprehensive report on PKU mutations in southeastern Europe, adding to the growing bulk of molecular data for population genetic investigations...
  50. ncbi Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards
    Hongying Gan-Schreier
    Department of Pediatrics, Ruprecht Karls University, Heidelberg, Germany
    J Pediatr 156:427-32. 2010
    ..To allow early recognition of cystathionine beta-synthase by newborn screening...
  51. ncbi Beta-carotene cleavage products after oxidation mediated by hypochlorous acid--a model for neutrophil-derived degradation
    Olaf Sommerburg
    Department of Pediatrics, University of Ulm, Ulm, Germany
    Free Radic Biol Med 35:1480-90. 2003
    ..Our findings may be of biological relevance because beta-carotene CPs are highly reactive and, therefore, potentially toxic...
  52. ncbi Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families
    Katharina Mouchegh
    Department of Pediatrics, Klinikum Neukölln, Berlin, Germany
    J Pediatr 150:57-61.e2. 2007
    ..To characterize a new lethal fetal and early postnatal variant of adenylosuccinate lyase (ADSL) deficiency...
  53. ncbi The diagnosis of mitochondrial HMG-CoA synthase deficiency
    Johannes Zschocke
    Division of Metabolic and Endocrine Diseases, University Children's Hospital, Heidelberg, Germany
    J Pediatr 140:778-80. 2002
    ..We report that the diagnosis can be made by typical laboratory findings (hypoketosis, elevated free fatty acids, normal acylcarnitines, specific urinary organic acids) during acute episodes...
  54. ncbi Molecular neonatal screening for homocystinuria in the Qatari population
    Johannes Zschocke
    Institute of Human Genetics, Ruprecht Karls University, Heidelberg, Germany
    Hum Mutat 30:1021-2. 2009
    ..However, sensitivity for the diagnosis of disorders caused by various mutations is limited even in a homogeneous population such as Qatar...
  55. ncbi 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...
  56. ncbi 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...
  57. ncbi Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum
    Viola Prietsch
    General Pediatrics, University of Heidelberg, Federal Republic of Germany
    Pediatrics 111:258-61. 2003
    ..Recurrent febrile crises seem to diminish with increasing age and may not even be an obligatory finding. Elevation of IgD is most likely a secondary phenomenon that seems to be linked to recurrent febrile crises...
  58. ncbi Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia
    Birgit Assmann
    Institute of Child Health, University College London, London WC1N 1EH, UK
    Pediatr Res 52:91-4. 2002
    ..001). We conclude that a significant number of children with DND have reduced CNS serotonin turnover. Treatment with drugs that increase serotonin concentration in the synaptic cleft should be considered in this group of patients...
  59. ncbi Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene
    Marcel M Verbeek
    Department of Neurology and Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Ann Neurol 62:422-6. 2007
    ..Our data suggest that, if no mutations are found in the coding regions of the gene in patients strongly suspected of TH deficiency, the search for pathogenic mutations should be extended to regulatory promotor elements...
  60. ncbi Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges
    Friederike Hörster
    Pediatr Nephrol 19:1071-4. 2004
    ..Interdisciplinary research efforts in this field should reveal new pathophysiological links and hopefully provide additional therapeutic approaches...
  61. ncbi 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
    ....
  62. ncbi Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism
    Matthias Mack
    Institut für Technische Mikrobiologie der Hochschule Mannheim, Germany
    FEBS J 273:2012-22. 2006
    ..The only missense mutation found in MGA1 phenotypes, c.719C>T, leading to the amino acid exchange A240V, produces an enzyme with only 9% of the wild-type 3-MG-CoA hydratase activity...
  63. ncbi Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy
    Matthias R Baumgartner
    Division of Metabolism and Molecular Pediatrics, University Children s Hospital, Zurich, Switzerland
    Am J Hum Genet 75:790-800. 2004
    ..We show that MCCA-R385S, but not other MCCA missense alleles, reduces the MCC activity of cotransfected MCCA-wild-type allele. Our results suggest that MCCA-R385S is a dominant negative allele and is biotin responsive in vivo...
  64. ncbi Evidence that 3-hydroxyglutaric acid interacts with NMDA receptors in synaptic plasma membranes from cerebral cortex of young rats
    Rafael B Rosa
    , , UFRGS, Rua Ramiro Barcellos, 2600 Anexo, CEP 90035-003, Porto Alegre, RS, Brazil
    Neurochem Int 45:1087-94. 2004
    ..The present study therefore, demonstrates at the molecular level that 3-HGA modulates glutamatergic neurotransmission and may explain previous findings relating the neurotoxic actions of this organic acid with excitotoxicity...
  65. ncbi Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenot
    Silvia Stojanov
    Department of Infectious Diseases Immunology, Children s Hospital, University of Munich, Munich, Germany
    Arthritis Rheum 50:1951-8. 2004
    ....
  66. ncbi Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy
    Bernard Echenne
    Service de Neuropediatrie, CHU Montpellier, France
    Pediatr Neurol 35:308-13. 2006
    ..Such a widened approach to the diagnostic efforts in early-onset encephalopathy with motor delay during childhood is important, as we have at our disposal a simple and effective treatment...
  67. ncbi 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...
  68. ncbi eIF2B-related disorders: antenatal onset and involvement of multiple organs
    Marjo S van der Knaap
    Department of Child Neurology, Free University Medical Center, Amsterdam, The Netherlands
    Am J Hum Genet 73:1199-207. 2003
    ....
  69. ncbi Ernst Moro (1874-1951)--a great pediatric career started at the rise of university-based pediatric research but was curtailed in the shadows of Nazi laws
    Angela Weirich
    , Im Neuenheimer Feld 153, 69120 Heidelberg, Germany
    Eur J Pediatr 164:599-606. 2005
    ..However, as his wife was of Jewish origin, Moro slowly withdrew from hospital service starting in 1933. After early retirement in 1936, he worked as a pediatrician at home until 1948...
  70. ncbi Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase
    Philippa B Mills
    Institute of Child Health, University College London with Great Ormond Street Hospital for Children, NHS Trust, London WC1N 1EH, UK
    Hum Mol Genet 14:1077-86. 2005
    ..Maintenance of optimal PLP levels in the brain may be important in many neurological disorders in which neurotransmitter metabolism is disturbed (either as a primary or as a secondary phenomenon)...
  71. ncbi Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId
    Bengt Hansske
    Abteilung Biochemie II, Georg August Universitat Gottingen, Heinrich Düker Weg 12, D 37073 Gottingen, Germany
    J Clin Invest 109:725-33. 2002
    ..The patient was homozygous and his parents heterozygous for this mutation. Expression of a corresponding mutant cDNA in COS-7 cells led to the synthesis of a truncated, inactive polypeptide, which localized to the endoplasmic reticulum...
  72. ncbi Public, expert and patients' opinions on preimplantation genetic diagnosis (PGD) in Germany
    Tanja Krones
    Centre for Conflict Studies, University of Marburg and Bioethics Clinical Ethics, University Hospital, Marburg, Germany
    Reprod Biomed Online 10:116-23. 2005
    ....
  73. ncbi beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities
    Andre B P van Kuilenburg
    Department of Clinical Chemistry, Emma Children s Hospital, The Netherlands
    Hum Mol Genet 13:2793-801. 2004
    ..Thus, a beta-ureidopropionase deficiency might not be as rare as is generally considered...
  74. ncbi Levodopa-responsive aromatic L-amino acid decarboxylase deficiency
    Yuh Terng Chang
    Kimberly H Courtwright and Joseph W Summers Institute of Metabolic Disease, Baylor University Medical Center, 3812 Elm Street, Dallas, TX 75226, USA
    Ann Neurol 55:435-8. 2004
    ..This, combined with structural modeling suggesting alteration of active site configuration, provided an explanation for the therapeutic response to levodopa...
  75. ncbi Congenital glutamine deficiency with glutamine synthetase mutations
    Stefan Kölker
    N Engl J Med 354:1093-4; author reply 1093-4. 2006
  76. ncbi Normal dopaminergic and serotonergic metabolites in cerebrospinal fluid and blood of restless legs syndrome patients
    Karin Stiasny-Kolster
    Department of Neurology, Philipps University Marburg, Germany
    Mov Disord 19:192-6. 2004
    ..In addition, serotonin in whole blood and plasma activity of aromatic amino acid decarboxylase were all normal. Our results suggest that dopaminergic and serotonergic release is not substantially affected in RLS...
  77. ncbi Increase in glutamate-induced neurotoxicity by activated astrocytes involves stimulation of protein kinase C
    Barbara Ahlemeyer
    Institut fur Pharmakologie und Toxikologie, Fachbereich Pharmazie der Philipps Universität Marburg, Germany
    J Neurochem 82:504-15. 2002
    ....
  78. ncbi Lysine intake and neurotoxicity in glutaric aciduria type I: towards a rationale for therapy?
    Stefan Kölker
    Brain 129:e54. 2006
  79. ncbi Nigrostriatal dysfunction in X-linked dystonia-parkinsonism (DYT3)
    Björn Tackenberg
    Mov Disord 22:900-2. 2007
  80. ncbi Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia
    Birgit Assmann
    University Children s Hospital, Dusseldorf, D 69120 Germany
    Ann Neurol 54:S18-24. 2003
    ..If this is the case, all of the investigations suggested here may need to be performed regardless of age and presentation. However, of more value is a careful clinical reevaluation...
  81. ncbi Cytosine arabinofuranoside-induced activation of astrocytes increases the susceptibility of neurons to glutamate due to the release of soluble factors
    Barbara Ahlemeyer
    Institut fur Pharmakologie und Toxikologie, Fachbereich Pharmazie der Philipps Universität Marburg, Ketzerbach 63, 35032 Marburg, Germany
    Neurochem Int 42:567-81. 2003
    ..Our findings provide evidence that activation of astrocytes impairs their ability to protect neurons after excitotoxic injury due to changes in the release of soluble and heat-sensitive factors...
  82. ncbi Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency
    Leandra Jäggi
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
    Mol Genet Metab 93:295-305. 2008
    ..Our data suggest that diagnosis within the first month of life is essential for a good outcome and that low CSF5 HIAA and HVA values in CSF could be an indicator for the ongoing developmental impairment..
  83. ncbi Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency?
    Mahmoud F Elsaid
    Department of Pediatrics Neurology Unit, Hamad General Hospital, Hamad Medical Corporation, Qatar, and Department of Evidence for Population Health Unit, School of Epidemiology and Health Sciences, The University of Manchester, UK
    Mol Genet Metab 92:100-3. 2007
    ..Comparative cross-sectional study to assess homocysteine and vitamin status in carriers of CBS gene mutations...