E Mayatepek

Summary

Affiliation: University of Heidelberg
Country: Germany

Publications

  1. ncbi S-Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency
    J G Okun
    Department of General Pediatrics, University Children s Hospital, Heidelberg, Germany
    J Inherit Metab Dis 27:783-6. 2004
  2. ncbi Leukotriene C4 synthesis deficiency: a member of a probably underdiagnosed new group of neurometabolic diseases
    E Mayatepek
    Department of General Paediatrics, University Children s Hospital, Heidelberg, Germany
    Eur J Pediatr 159:811-8. 2000
  3. ncbi Analysis of leukotrienes in cerebrospinal fluid of a reference population and patients with inborn errors of metabolism: further evidence for a pathognomonic profile in LTC(4)-synthesis deficiency
    E Mayatepek
    Division of Metabolic Diseases, University Children s Hospital, Im Neuenheimer Feld 150, D 69120, Heidelberg, Germany
    Clin Chim Acta 292:155-62. 2000
  4. ncbi Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency
    E Mayatepek
    Department of General Pediatrics, University Children s Hospital, Heidelberg, Germany
    Hum Mutat 15:118. 2000
  5. ncbi Increased urinary excretion of LTB4 and omega-carboxy-LTB4 in patients with Zellweger syndrome
    E Mayatepek
    Division of Metabolic Diseases, University Children s Hospital, Heidelberg, Germany
    Clin Chim Acta 282:151-5. 1999
  6. doi Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop
    U Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    J Inherit Metab Dis 32:498-505. 2009
  7. ncbi Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient mice
    U Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, 40225 Dusseldorf, Germany
    Horm Metab Res 38:625-30. 2006
  8. ncbi 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 Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype
    M Lindner
    Division of Metabolic and Endocrine Diseases, University Children s Hospital, Im Neuenheimer Feld 150, 69120 Heidelberg, Germany
    Mol Genet Metab 73:104-6. 2001
  10. ncbi Leukotriene C4-synthesis deficiency: a new inborn error of metabolism linked to a fatal developmental syndrome
    E Mayatepek
    Department of General Paediatrics, Children s Hospital, University of Heidelberg, Germany
    Lancet 352:1514-7. 1998

Detail Information

Publications61

  1. ncbi S-Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency
    J G Okun
    Department of General Pediatrics, University Children s Hospital, Heidelberg, Germany
    J Inherit Metab Dis 27:783-6. 2004
    ..This has implications for the treatment of patients with this inborn error of metabolism...
  2. ncbi Leukotriene C4 synthesis deficiency: a member of a probably underdiagnosed new group of neurometabolic diseases
    E Mayatepek
    Department of General Paediatrics, University Children s Hospital, Heidelberg, Germany
    Eur J Pediatr 159:811-8. 2000
    ..Moreover, certain disease states which are known to be associated with secondary disturbances of LT degradation are also discussed...
  3. ncbi Analysis of leukotrienes in cerebrospinal fluid of a reference population and patients with inborn errors of metabolism: further evidence for a pathognomonic profile in LTC(4)-synthesis deficiency
    E Mayatepek
    Division of Metabolic Diseases, University Children s Hospital, Im Neuenheimer Feld 150, D 69120, Heidelberg, Germany
    Clin Chim Acta 292:155-62. 2000
    ..0-67.3 pg/ml) is pathognomonic for LTC(4)-synthesis deficiency. The unique profile of leukotrienes in cerebrospinal fluid in this new disorder is primarily related to the defect and represents a new diagnostic approach...
  4. ncbi Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency
    E Mayatepek
    Department of General Pediatrics, University Children s Hospital, Heidelberg, Germany
    Hum Mutat 15:118. 2000
    ..This is the first report of compound heterozygosity for two missense mutations in a patient with SCD. Hum Mutat 15:118, 2000...
  5. ncbi Increased urinary excretion of LTB4 and omega-carboxy-LTB4 in patients with Zellweger syndrome
    E Mayatepek
    Division of Metabolic Diseases, University Children s Hospital, Heidelberg, Germany
    Clin Chim Acta 282:151-5. 1999
    ..Analysis of urinary leukotrienes represents an additional diagnostic tool in peroxisome deficiency disorders. Furthermore, these results clearly underline the essential role of peroxisomes in the oxidation of LTB4 in humans...
  6. doi Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop
    U Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    J Inherit Metab Dis 32:498-505. 2009
    ..On the basis of the collected data, recommendations are given with regard to the fat and carbohydrate content of the diet, the maximal length of fasting periods and the use of l-carnitine in long-chain fatty acid oxidation defects...
  7. ncbi Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient mice
    U Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, 40225 Dusseldorf, Germany
    Horm Metab Res 38:625-30. 2006
    ..Whether this is due to lack of a substrate, inhibitory effects on other gluconeogenic enzymes or impaired transcription of gluconeogenic enzymes needs to be resolved in the future...
  8. ncbi 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 Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype
    M Lindner
    Division of Metabolic and Endocrine Diseases, University Children s Hospital, Im Neuenheimer Feld 150, 69120 Heidelberg, Germany
    Mol Genet Metab 73:104-6. 2001
    ..Our results suggest that BH(4) responsiveness in PAH deficiency is at least partly independent from PAH genotype...
  10. ncbi Leukotriene C4-synthesis deficiency: a new inborn error of metabolism linked to a fatal developmental syndrome
    E Mayatepek
    Department of General Paediatrics, Children s Hospital, University of Heidelberg, Germany
    Lancet 352:1514-7. 1998
    ..The course of the disease was rapidly progressive and the infant died aged 6 months...
  11. ncbi Carnitine supplementation induces long-chain acylcarnitine production--studies in the VLCAD-deficient mouse
    M Liebig
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
    J Inherit Metab Dis 29:343-4. 2006
    ..Carnitine supplementation does not affect carnitine concentrations in tissues of wild-type and very long-chain acyl-CoA dehydrogenase-deficient mice, but results in an increase in long-chain acylcarnitine production...
  12. ncbi Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2
    U Spiekerkoetter
    Clinic of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    J Inherit Metab Dis 26:613-5. 2003
    ..Whereas one boy became symptomatic with a Reye-syndrome-like picture of hepatopathy and encephalopathy in infancy, the other affected family members remained asymptomatic up to their current ages of 28 and 5 years, respectively...
  13. doi Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop
    U Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    J Inherit Metab Dis 32:488-97. 2009
    ..In summary, in this cohort the treatment regimen was adapted to the severity of the underlying enzyme defect and thus differed among the group of long-chain FAO defects...
  14. pmc Exercise induced hypoglycaemic hyperinsulinism
    T Meissner
    Division of Metabolic and Endocrine Diseases, University Children's Hospital, Im Neuenheimer Feld 150, D-69120 Heidelberg, Germany
    Arch Dis Child 84:254-7. 2001
    ..It should be suspected in individuals with recurrent exercise related syncope or disturbance of consciousness...
  15. doi Pseudotumor cerebri in childhood and adolescence -- results of a Germany-wide ESPED-survey
    D Tibussek
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Duesseldorf, Germany
    Klin Padiatr 225:81-5. 2013
    ..This national survey aims to raise awareness of the PTC in paediatrics and contribute to a better understanding of age-related characteristics...
  16. ncbi 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...
  17. ncbi Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation
    A Schulze
    Department of General Pediatrics, Division of Metabolic and Endocrine Diseases, University Children s Hospital, Im Neuenheimer Feld 150, Heidelberg, 69120, Germany
    Mol Genet Metab 74:413-9. 2001
    ..This indicates for the first time that GAA may exert an important epileptogenic potential in man. Arginine restriction in combination with ornithine supplementation represents a new and rationale therapeutic approach in GAMT deficiency...
  18. doi Diagnosis of glutathione synthetase deficiency in newborn screening
    E Simon
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    J Inherit Metab Dis 32:S269-72. 2009
    ..Presently, GSS deficiency is not included in newborn screening programmes in Europe. As outcome depends significantly on early start of treatment, routine inclusion of this disorder in newborn screening panels should be considered...
  19. ncbi A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations
    B Assmann
    University Children s Hospital, Division of Metabolic and Endocrine Diseases, Heidelberg, Germany
    Neuropediatrics 32:313-8. 2001
    ..Liver biopsy showed lysosomal inclusions suggesting a pre-Golgi defect. This patient's case supports the approach to include isoelectric focusing of serum transferrin in the diagnostic work-up of patients with unexplained symptoms...
  20. doi Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment
    J U Schlump
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, 40225, Dusseldorf, Germany
    J Inherit Metab Dis 31:S223-5. 2008
    ..After re-introduction of NTBC the patient slowly regained normal neurological functions and recovered completely...
  21. doi Cat scratch disease--heterogeneous in clinical presentation: five unusual cases of an infection caused by Bartonella henselae
    S Weinspach
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstrasse 5, Dusseldorf, Germany
    Klin Padiatr 222:73-8. 2010
    ..These tests include serology and, where possible, histology including molecular diagnostic methods on tissue specimens...
  22. ncbi Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress
    U Spiekerkoetter
    University Children s Hospital, Dusseldorf, Germany
    Eur J Clin Invest 34:191-6. 2004
    ..In this paper we have used the VLCAD knockout mouse as a model to study changes in blood carnitine and acylcarnitine profiles under stress...
  23. doi Association of exercise-induced hyperinsulinaemic hypoglycaemia with MCT1-expressing insulinoma
    J Marquard
    Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children s Hospital Düsseldorf, Moorenstrasse 5, 40225 Dusseldorf, Germany
    Diabetologia 56:31-5. 2013
    ..Recently, transgenic Mct1 expression in pancreatic beta cells was shown to introduce EIHI symptoms in mice. To date, MCT1 has not been demonstrated in insulin-producing cells from an EIHI patient...
  24. ncbi LTB4 and LTC4 are absent in the cerebrospinal fluid of human immunodeficiency virus type 1-seropositive persons with toxoplasmic encephalitis: evidence for inhibition of 5-lipoxygenase by Toxoplasma gondii
    E Mayatepek
    Department of General Pediatrics, University Children s Hospital, 69120 Heidelberg, Germany
    J Infect Dis 179:714-6. 1999
    ..6+/-21.2; LTC4, 45.2+/-18.9 pg/mL). These results point to an essential role of inhibition of 5-lipoxygenase with subsequent failure of LT release as an important mechanism for the survival of T. gondii in vivo...
  25. ncbi 5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle
    E Mayatepek
    Division of Metabolic Diseases, University Children s Hospital, Heidelberg, Germany
    Eur J Pediatr 158:221-5. 1999
    ..Additionally, transient 5-oxoprolinuria was associated with homocystinuria, Stevens-Johnson syndrome, paracetamol intoxication, vigabatrin medication or extreme prematurity...
  26. ncbi Enhanced urinary excretion of leukotriene E4 in patients with mevalonate kinase deficiency
    E Mayatepek
    University Children s Hospital, Heidelberg, Germany
    J Pediatr 123:96-8. 1993
    ..A positive linear relationship between increased urinary excretion of mevalonate and LTE4 (n = 5) suggests that increased cysteinyl leukotriene synthesis is involved in the pathomechanisms of this disease...
  27. ncbi Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency
    M Lindner
    Division of Metabolic and Endocrine Disorders, University Children s Hospital, Heidelberg, Germany
    Hum Mutat 21:400. 2003
    ..527G>C) and the common null-mutation P281L. In summary, our data are in line with recent reports indicating that BH4 sensitivity is a normal feature of most mild forms of PAH deficiency but may be influenced by other factors...
  28. ncbi Effects of indomethacin in congenital chloride diarrhea
    E Mayatepek
    University Children s Hospital, Heidelberg
    J Pediatr Gastroenterol Nutr 14:319-22. 1992
    ..Prostaglandins, therefore, seem to play no important role in intestinal loss of electrolytes in CCD, and it is suggested that indomethacin is of no importance in the treatment of patients with CCD...
  29. doi Sedation of children during measurement of CSF opening pressure: lack of standardisation in German children with pseudotumor cerebri
    D Tibussek
    Department of General Pediatrics, University Children s Hospital Duesseldorf, Germany
    Klin Padiatr 224:40-2. 2012
    ..We aimed to evaluate the current practice regarding pain and stress management in children undergoing lumbar puncture (LP) for pressure measurement...
  30. ncbi Massive insulin secretion in response to anaerobic exercise in exercise-induced hyperinsulinism
    T Meissner
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    Horm Metab Res 37:690-4. 2005
    ....
  31. ncbi Urinary leukotriene E(4) levels are not increased prior to high-altitude pulmonary edema
    P Bartsch
    Institute of Sportsmedicine, University Hospital, Heidelberg, Germany
    Chest 117:1393-8. 2000
    ..To examine whether increased urinary cysteinyl-leukotriene E(4) (LTE(4)) excretion, which has been found to be elevated in patients presenting with high-altitude pulmonary edema (HAPE), precedes edema formation...
  32. ncbi Defective hepatobiliary leukotriene elimination in patients with the Dubin-Johnson syndrome
    E Mayatepek
    Department of General Pediatrics, University Children s Hospital, University of Heidelberg, Germany
    Clin Chim Acta 249:37-46. 1996
    ..Analysis of endogenous urinary leukotrienes seems to be a new approach to the noninvasive diagnosis of this disease...
  33. ncbi Severe hyperchloriduria-hyperkaliuria: a new congenital renal tubular abnormality?
    J Meyburg
    University Children s Hospital, Heidelberg, Germany
    J Pediatr 128:376-8. 1996
    ..These findings may represent a new congenital renal tubular abnormality...
  34. ncbi Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I
    A Schulze
    Division of Metabolic and Endocrine Diseases, University Children s Hospital, Im Neuenheimer Feld 150, 69120 Heidelberg, Germany
    Clin Chem 47:1424-9. 2001
    ..We developed a semiquantitative assay based on inhibition of delta-aminolevulinate dehydratase (ALA-D) by succinylacetone...
  35. ncbi Molecular and functional characterisation of mild MCAD deficiency
    J Zschocke
    Division of Metabolic and Endocrine Diseases, University Children s Hospital, Heidelberg, Germany
    Hum Genet 108:404-8. 2001
    ....
  36. ncbi Acute metabolic crisis with extreme deficiency of glutathione in combination with decreased levels of leukotriene C4 in a patient with glutathione synthetase deficiency
    E Mayatepek
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    J Inherit Metab Dis 27:297-9. 2004
    ..The highly disturbed glutathione synthesis is postulated to be the reason for a deficient synthesis of cysteinyl leukotrienes, which may at least in part be responsible for the severe clinical symptoms...
  37. ncbi Fatal hypertensive crisis as presentation of mitochondrial complex I deficiency
    K Lohmeier
    Department of General Pediatrics, Heinrich Heine Universitat, Dusseldorf, Germany
    Neuropediatrics 38:148-50. 2007
    ..This fatal and unusual case was characterized by widely uncontrollable arterial hypertension. It might indicate that hypertensive crisis could be a potential manifestation of mitochondrial disorders...
  38. doi Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H)
    A Koy
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    Neuropediatrics 38:282-6. 2007
    ....
  39. doi Diagnostic difficulties in glucokinase hyperinsulinism
    T Meissner
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    Horm Metab Res 41:320-6. 2009
    ..Delay of diagnosis might result in mental handicap of the affected individuals...
  40. ncbi Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding
    B Hoffmann
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Dusseldorf, Germany
    Neuropediatrics 37:163-5. 2006
    ..The gastric mucosa showed marked infiltration with Gaucher cells, in particular around the ulcer. Alterations of the gastrointestinal mucosa offer a new explanation for gastrointestinal bleedings in this disease...
  41. ncbi Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency
    A Schulze
    Department of Pediatrics I, University Children s Hospital, Heidelberg, Germany
    Neurology 67:719-21. 2006
    ..The authors' observation indicates that early detection of GAMT-D is possible in the neonatal period, and presymptomatic treatment may prevent its manifestation...
  42. ncbi Seasonal variation and atypical presentation of idiopathic intracranial hypertension in pre-pubertal children
    F Distelmaier
    Department of General Paediatrics, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    Cephalalgia 27:1261-4. 2007
    ..Moreover, eight children presented only with ophthalmologic findings without any other obvious symptoms, raising questions regarding the incidence of undetected cases, particularly in this age group...
  43. ncbi Dialysis in neonates with inborn errors of metabolism
    F Schaefer
    Division of Pediatric Nephrology, University Children s Hospital, Heidelberg, Germany
    Nephrol Dial Transplant 14:910-8. 1999
    ..Outcome critically depends on the immediate elimination of the accumulated neurotoxins. Recent technological progress provides improved tools to optimize the efficacy of neonatal dialysis...
  44. ncbi Hyperinsulinism in syndromal disorders
    T Meissner
    Division of Metabolic and Endocrine Diseases, University Children's Hospital, Heidelberg, Germany
    Acta Paediatr 90:856-9. 2001
    ....
  45. doi Nasogastric vs. intravenous rehydration in children with gastroenteritis and refusal to drink: a randomized controlled trial
    J Marquard
    Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children s Hospital Duesseldorf, Germany
    Klin Padiatr 226:19-23. 2014
    ..However, in clinical practice IVRT is often favored. We conducted a clinical trial to determine whether IVRT is not inferior to NGRT...
  46. ncbi Antiepileptic treatment in paediatric oncology--an interdisciplinary challenge
    D Tibussek
    Department of General Paediatrics, University Children s Hospital, Dusseldorf, Germany
    Klin Padiatr 218:340-9. 2006
    ..Until that time, clinicians will need to continue to question current policies and adapt their daily practice to evolving scientific data...
  47. ncbi White matter disease in cerebral organic acid disorders: clinical implications and suggested pathomechanisms
    S Kolker
    Department of General Pediatrics, Division of Metabolic and Endocrine Diseases, University Children s Hospital, Heidelberg, Germany
    Neuropediatrics 33:225-31. 2002
    ....
  48. ncbi Infantile onset neurofibromatosis type 2 presenting with peripheral facial palsy, skin patches, retinal hamartoma and foot drop
    D Tibussek
    Department of General Paediatrics, University Children s Hospital, Dusseldorf, Germany
    Klin Padiatr 221:247-50. 2009
    ..However, it is now known that many NF2 patients present clinical signs and symptoms in early childhood. We here report an illustrative case of a male adolescent with an infantile onset clinical symptomatology...
  49. ncbi Extended experience with glycine for prevention of reperfusion injury after human liver transplantation
    P Schemmer
    Department of Surgery and the Childrens Hospital, Division of Metabolic and Endocrine Disease, Ruprecht Karls University of Heidelberg, Heidelberg, Germany
    Transplant Proc 34:2307-9. 2002
  50. ncbi Severe hyperhomocysteinaemia and 5-oxoprolinuria secondary to antiproliferative and antimicrobial drug treatment
    B Schwahn
    Clinic for General Pediatrics, University Children s Hospital, Moorenstrasse 5, D 40225, Dusseldorf, Germany
    J Inherit Metab Dis 28:99-102. 2005
    ..Laboratory tests normalized completely after recovery. Primary defects in glutathione metabolism could be excluded...
  51. ncbi Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed
    S Al Sawaf
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University, Moorenstr 5, D 40225, Düsseldorf 20, Germany
    J Inherit Metab Dis 31:473-80. 2008
    ..In addition, an appraisal is given whether or not enzyme replacement therapy may be able to improve in particular the neurological symptoms of Hunter disease...
  52. ncbi Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome
    M A Willemsen
    Department of Paediatric Neurology, University Medical Centre, St Radboud, Nijmegen, The Netherlands
    Brain 124:1426-37. 2001
    ..The vast majority of SLS patients seem to be severely affected independent of their genotype...
  53. ncbi Genetic basis of mitochondrial HMG-CoA synthase deficiency
    R Aledo
    Department of Molecular Biology, International University of Catalonia, Barcelona, Spain
    Hum Genet 109:19-23. 2001
    ..Molecular studies may facilitate or confirm future diagnoses in affected patients...
  54. ncbi Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome
    R Santer
    Department of Pediatrics, University Children s Hospital, Kiel, Germany
    Hum Genet 108:66-71. 2001
    ....
  55. ncbi Long-term clinical outcome in patients with glutathione synthetase deficiency
    E Ristoff
    Department of Pediatrics, Karolinska Institutet, Huddinge University Hospital, Stockholm, Sweden
    J Pediatr 139:79-84. 2001
    ..Our results indicate that early supplementation with vitamins C and E may improve the long-term clinical outcome...
  56. ncbi Postnatal changes in neonatal acylcarnitine profile
    J Meyburg
    Department of Neonatology, University Children's Hospital, 69120 Heidelberg, Germany
    Pediatr Res 49:125-9. 2001
    ..01). Lower umbilical artery pH, i.e. mild hypoxia, caused accumulation of mainly long-chain acylcarnitines. This implicates that long-chain acylcarnitines could serve as a parameter of perinatal asphyxia...
  57. ncbi Congenital hyperinsulinism: molecular basis of a heterogeneous disease
    T Meissner
    Division of Metabolic Diseases, University Children s Hospital, Heidelberg, Germany
    Hum Mutat 13:351-61. 1999
    ..The heterogeneous group of patients with CHI may now be classified according to their basic defects in the four different genes, with potential implications for a more specific treatment...
  58. ncbi [Fabry disease--a provocation for pediatrics]
    B Hoffmann
    Klinik fur Allgemeine Padiatrie, Heinrich Heine Universitat Dusseldorf
    Klin Padiatr 218:38-40. 2006
    ..Enzyme replacement therapy (ERT) offers an efficient treatment of Fabry disease. On the basis of newly diagnosed patients we describe the clinical picture, diagnosis and principles of ERT...
  59. ncbi Molecular diagnosis of type 1c glycogen storage disease
    A R Janecke
    Institute of Human Genetics, University of Heidelberg, Germany
    Hum Genet 104:275-7. 1999
    ....
  60. ncbi Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency
    M Schuelke
    Charite University Hospital, Department of Neuropediatrics, Clinic of Child and Adolescent Psychiatry, Psychosomatic and Psychotherapy, Berlin, Germany
    J Pediatr 134:240-4. 1999
    ..After initiation of high-dosage alpha-tocopherol therapy, the organic mental syndrome disappeared and cognitive function improved rapidly. Neurologic recovery, however, was slow and incomplete...
  61. pmc Glucose and leucine kinetics in idiopathic ketotic hypoglycaemia
    O A Bodamer
    Biochemical Genetics and National Neonatal Screening Laboratories, University Children s Hospital Vienna, Vienna, Austria
    Arch Dis Child 91:483-6. 2006
    ..To investigate glucose and leucine kinetics in association with metabolic and endocrine investigations in children with ketotic hypoglycaemia (KH) in order to elucidate the underlying pathophysiology...