Ertan Mayatepek

Summary

Affiliation: Heinrich Heine University
Country: Germany

Publications

  1. ncbi request reprint Analysis of cysteinyl leukotrienes and their metabolites in bile of patients with peroxisomal or mitochondrial beta-oxidation defects
    Ertan Mayatepek
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, D 40225, Dusseldorf, Germany
    Clin Chim Acta 345:89-92. 2004
  2. ncbi request reprint A patient with neurological symptoms and abnormal leukotriene metabolism: a new defect in leukotriene biosynthesis
    Ertan Mayatepek
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, D 40225 Dusseldorf, Germany
    Ann Neurol 58:968-70. 2005
  3. ncbi request reprint Benzydamine metabolism in vivo is impaired in patients with deficiency of flavin-containing monooxygenase 3
    Ertan Mayatepek
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    Pharmacogenetics 14:775-7. 2004
  4. doi request reprint Inborn errors of carbohydrate metabolism
    Ertan Mayatepek
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, 40225 Dusseldorf, Germany
    Best Pract Res Clin Gastroenterol 24:607-18. 2010
  5. ncbi request reprint Synthesis and metabolism of leukotrienes in gamma-glutamyl transpeptidase deficiency
    Ertan Mayatepek
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    J Lipid Res 45:900-4. 2004
  6. 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
  7. ncbi request reprint Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels
    Michaela Liebig
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, D 40225 Dusseldorf, Germany
    Pediatrics 118:1065-9. 2006
  8. ncbi request reprint 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
  9. doi request reprint Clinical spectrum of the pseudotumor cerebri complex in children
    Daniel Tibussek
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstr 5, 40225, Dusseldorf, Germany
    Childs Nerv Syst 26:313-21. 2010
  10. doi request reprint Identification and functional analysis of mitochondrial complex I assembly factor homologues in C. elegans
    Daniela van den Ecker
    Department of General Pediatrics and Neonatology, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    Mitochondrion 12:399-405. 2012

Detail Information

Publications112 found, 100 shown here

  1. ncbi request reprint Analysis of cysteinyl leukotrienes and their metabolites in bile of patients with peroxisomal or mitochondrial beta-oxidation defects
    Ertan Mayatepek
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, D 40225, Dusseldorf, Germany
    Clin Chim Acta 345:89-92. 2004
    ..g. contributing to liver injury. In addition, our data confirm that the beta-oxidation of cysteinyl LTs in vivo occurs in peroxisomes and not in mitochondria...
  2. ncbi request reprint A patient with neurological symptoms and abnormal leukotriene metabolism: a new defect in leukotriene biosynthesis
    Ertan Mayatepek
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, D 40225 Dusseldorf, Germany
    Ann Neurol 58:968-70. 2005
    ..These data suggest membrane-bound dipeptidase deficiency, a new defect in leukotriene biosynthesis on the step of LTE(4) synthesis, as underlying defect...
  3. ncbi request reprint Benzydamine metabolism in vivo is impaired in patients with deficiency of flavin-containing monooxygenase 3
    Ertan Mayatepek
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    Pharmacogenetics 14:775-7. 2004
    ..This is relevant because of the prevalence of mild FMO3 deficiency in the general population. BZD may be also useful as a diagnostic probe for determination of FMO3 deficiency in vivo...
  4. doi request reprint Inborn errors of carbohydrate metabolism
    Ertan Mayatepek
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, 40225 Dusseldorf, Germany
    Best Pract Res Clin Gastroenterol 24:607-18. 2010
    ..A lactose-free infant formula can be life-saving in affected neonates whereas a strict fructose-restricted diet is indicated in hereditary fructose intolerance...
  5. ncbi request reprint Synthesis and metabolism of leukotrienes in gamma-glutamyl transpeptidase deficiency
    Ertan Mayatepek
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    J Lipid Res 45:900-4. 2004
    ..GGT deficiency represents a new inborn error of cysteinyl LT synthesis and provides a unique model in which to study the pathobiological coherence of LT and glutathione metabolism...
  6. 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...
  7. ncbi request reprint Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels
    Michaela Liebig
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, D 40225 Dusseldorf, Germany
    Pediatrics 118:1065-9. 2006
    ..Mildly elevated C14:1-carnitine on day 3 of life strongly suggests very long-chain acyl-coenzyme A dehydrogenase deficiency...
  8. ncbi request reprint 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
    ....
  9. doi request reprint Clinical spectrum of the pseudotumor cerebri complex in children
    Daniel Tibussek
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstr 5, 40225, Dusseldorf, Germany
    Childs Nerv Syst 26:313-21. 2010
    ..Our aim was to improve diagnosis and management of pseudotumor cerebri (PTC; also known as idiopathic intracranial hypertension) in children...
  10. doi request reprint Identification and functional analysis of mitochondrial complex I assembly factor homologues in C. elegans
    Daniela van den Ecker
    Department of General Pediatrics and Neonatology, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    Mitochondrion 12:399-405. 2012
    ..Our results suggest that mitochondrial complex I biogenesis is evolutionarily conserved. Moreover, Caenorhabditis elegans appears to be a promising model organism to study assembly factor related human diseases...
  11. doi request reprint MICS-1 interacts with mitochondrial ATAD-3 and modulates lifespan in C. elegans
    Michael Hoffmann
    Department of General Pediatrics and Neonatology, University Children s Hospital, Heinrich Heine University, D 40225 Dusseldorf, Germany
    Exp Gerontol 47:270-5. 2012
    ..This suggests (partially) independent effects of MICS-1 and ATAD-3 on lifespan and ROS production in vivo...
  12. doi request reprint Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC
    Eva Thimm
    Department of General Pediatrics, Medical Faculty, University Düsseldorf, Moorenstrasse 5, 40225, Dusseldorf, Germany
    J Inherit Metab Dis 35:263-8. 2012
    ..However, there are first reports of cognitive impairment in patients with elevated plasma tyrosine concentrations...
  13. pmc Corresponding increase in long-chain acyl-CoA and acylcarnitine after exercise in muscle from VLCAD mice
    Frank ter Veld
    Department of General Pediatrics, Heinrich Heine University, Dusseldorf, Germany
    J Lipid Res 50:1556-62. 2009
    ..This is the first study demonstrating that acylcarnitines and acyl-CoA directly correlate and concomitantly increase after exercise in VLCAD-deficient muscle...
  14. doi request reprint Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine
    Sonja Primassin
    Department of General Pediatrics, University Children s Hospital, Duesseldorf D 40225, Germany
    Pediatr Res 63:632-7. 2008
    ..The principle mechanism regulating carnitine homeostasis seems to be endogenous carnitine biosynthesis, also under conditions with increased demand of carnitine such as in VLCAD-deficiency...
  15. ncbi request reprint Simultaneous LC-MS/MS determination of phenylbutyrate, phenylacetate benzoate and their corresponding metabolites phenylacetylglutamine and hippurate in blood and urine
    Maurice D Laryea
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University, Moorenstraße 5, 40225 Dusseldorf, Germany
    J Inherit Metab Dis 33:S321-8. 2010
    ..Inter- and intraday relative standard deviations were <10%. Our newly developed LC-MS/MS represents a robust, sensitive, and rapid method that allows simultaneous determination of the five compounds in plasma and urine...
  16. doi request reprint Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency
    Ute Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Moorenstr 5, 40225 Duesseldorf, Germany
    Mol Genet Metab 94:428-30. 2008
    ..Severe cardiac mitochondrial proliferation in TFP deficiency suggests pathophysiologically relevant energy deficiency in this condition...
  17. pmc A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns
    Frank ter Veld
    Department of General Pediatrics, Heinrich Heine University, Dusseldorf, Germany
    PLoS ONE 4:e6449. 2009
    ..Therefore, we developed a new liquid chromatography tandem mass spectrometry (LC-MS/MS) method to rapidly determine both MCAD- and/or VLCAD-activity in human lymphocytes in order to confirm diagnosis...
  18. doi request reprint Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I
    Eva Thimm
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstrasse 5, Dusseldorf, Germany
    Mol Genet Metab 102:122-5. 2011
    ....
  19. 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...
  20. ncbi request reprint Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-up
    Felix Distelmaier
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstrasse 5, 40225 Dusseldorf, Germany
    Childs Nerv Syst 23:343-7. 2007
    ..Although the majority of NF1 patients are only mildly affected, the risk of developing malignancies is significantly increased in this population...
  21. ncbi request reprint Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice
    Ute Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, 40225 Dusseldorf, Germany
    Pediatr Res 57:760-4. 2005
    ..Our data suggest that carnitine supplementation in long-chain beta-oxidation defects may not be required, and blood carnitine concentrations do not reflect tissue carnitine homeostasis...
  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. doi request reprint Blue native electrophoresis to study mitochondrial complex I in C. elegans
    Daniela van den Ecker
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    Anal Biochem 407:287-9. 2010
    ..Moreover, we present the first complex I assembly profile for C. elegans, obtained by two-dimensional BN/SDS-PAGE...
  24. 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...
  25. ncbi request reprint Cystic renal dysplasia as a leading sign of inherited metabolic disease
    Felix Distelmaier
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University, Moorenstrasse 5, 40225, Dusseldorf, Germany
    Pediatr Nephrol 22:2119-24. 2007
    ..This knowledge should prompt careful observation and, where necessary, early intervention during the postnatal period of catabolism...
  26. doi request reprint Rare forms of congenital hyperinsulinism
    Jan Marquard
    Department of General Pediatrics, University Children s Hospital Düsseldorf, Germany
    Semin Pediatr Surg 20:38-44. 2011
    ..Patients with CHI should be managed by centers with a highly experienced team in diagnostic work-up and treatment of this disease...
  27. ncbi request reprint Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry
    Ina Schymik
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
    J Pediatr 149:128-30. 2006
    ..An increased C14:1-carnitine level can also occur in heterozygous individuals. Elevated C14:1-carnitine level on neonatal screening warrants further diagnostic workup even if a repeat sample demonstrates normal acylcarnitine levels...
  28. doi request reprint Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant
    Ulrike Hennewig
    Department of General Pediatrics, University Hospital Duesseldorf, Duesseldorf, Germany
    J Hum Genet 53:573-7. 2008
    ..Based on the observation of three patients presenting with the combination of congenital hyperinsulinism and CCHS, hyperinsulinism might represent an additional clinical feature of CCHS...
  29. ncbi request reprint Urinary NT-proBNP, NGAL, and H-FABP may predict hemodynamic relevance of patent ductus arteriosus in very low birth weight infants
    Veronika Tosse
    Neonatology and Pediatric Intensive Care Medicine, Department of General Pediatrics, Heinrich Heine University, Dusseldorf, Germany
    Neonatology 101:260-6. 2012
    ..The necessity to treat hsPDA can neither be derived solely from clinical nor from echocardiographic criteria...
  30. doi request reprint Identification of NTBC metabolites in urine from patients with hereditary tyrosinemia type 1 using two different mass spectrometric platforms: triple stage quadrupole and LTQ-Orbitrap
    Diran Herebian
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    Rapid Commun Mass Spectrom 24:791-800. 2010
    ..The applied MS strategy, based on two different MS platforms (LC/MS/MS and FTMS), allowed the rapid identification analysis of the drug metabolites from human extracts and could be used for pharmaceutical research and drug development...
  31. doi request reprint Chronic pancreatitis in branched-chain organic acidurias--a case of methylmalonic aciduria and an overview of the literature
    Jan Marquard
    Department of General Pediatrics, University Children s Hospital Düsseldorf, Moorenstr 5, 40225 Dusseldorf, Germany
    Eur J Pediatr 170:241-5. 2011
    ..Any form of pancreatitis should be ruled out in the assessment of acutely ill patients with BCOA...
  32. doi request reprint Mandibular aneurysmal bone cyst in a child misdiagnosed as acute osteomyelitis: a case report and a review of the literature
    Christian Breuer
    Department of General Pediatrics, University Hospital Dusseldorf, Heinrich Heine University, Moorenstr 5, 40225 Dusseldorf, Germany
    Eur J Pediatr 169:1037-40. 2010
    ..Therefore, aneurysmal bone cyst should be considered early when children present with unusual, rapid-growing neoformations of the extremities or the facial region...
  33. ncbi request reprint Secondary pseudotumor cerebri in pediatric oncology and hematology: an unpredictable condition of varying etiology
    Felix Distelmaier
    Department of General Pediatrics, Heinrich Heine University Dusseldorf, Moorenstrasse 5, Dusseldorf, Germany
    Pediatr Blood Cancer 49:1029-33. 2007
    ..Our study highlights the clinical features, contributing factors, and treatment options of this syndrome in children...
  34. doi request reprint A guide to diagnosis and treatment of Leigh syndrome
    Fabian Baertling
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    J Neurol Neurosurg Psychiatry 85:257-65. 2014
    ..To date, there is no cure for affected patients, and treatment options are mostly unsatisfactory. Here, we review the most important clinical aspects of Leigh syndrome, and discuss diagnostic steps as well as treatment options. ..
  35. ncbi request reprint Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome
    Thomas Meissner
    Department of General Pediatrics, University Children s Hospital, Moorenstr 5, D 40225 Dusseldorf, Germany
    Clin Chim Acta 341:23-6. 2004
    ..Therefore, we investigated whether urinary concentration of alpha-ketoglutarate (alpha-KG) is elevated in patients with hyperinsulinism...
  36. doi request reprint Severe hypernatremia in an extremely low birth weight infant with subsequent normal neurological development
    Hemmen Sabir
    Neonatology and Pediatric Intensive Care Medicine, Department of General Pediatrics, Heinrich Heine University, Dusseldorf, Germany
    Neonatology 97:90-2. 2010
    ..Even severe hypernatremia might not inevitably lead to central nervous system dysfunction and seizures in extremely low birth weight infants...
  37. ncbi request reprint Palivizumab-resistant human respiratory syncytial virus infection in infancy
    Ortwin Adams
    Institute of Virology, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    Clin Infect Dis 51:185-8. 2010
    ..A stable mutation at codon 276 led to a nearly complete resistance to palivizumab. Additional studies revealed a second mutation at codon 272. Further passage of the virus led to a complete loss of binding of palivizumab...
  38. 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...
  39. doi request reprint Osmotic regulation of hepatic betaine metabolism
    Lars Hoffmann
    Department of General Paediatrics, University Children s Hospital, Heinrich Heine University, Duesseldorf, Germany
    Am J Physiol Gastrointest Liver Physiol 304:G835-46. 2013
    ..The existence of such a well-orchestrated response underlines the importance of cell volume homeostasis for liver function and of methylamine osmolytes such as betaine as hepatic osmolytes...
  40. ncbi request reprint Approach to the management of slipped capital femoral epiphysis and primary hyperparathyroidism
    Tarik El Scheich
    Medical Faculty, Department of Paediatric Cardiology and Pulmonology, University Düsseldorf, D 40225 Dusseldorf, Germany
    J Pediatr Endocrinol Metab 25:239-44. 2012
    ..Worldwide, only nine cases of slipped capital femoral epiphysis (SCFE) associated with primary hyperparathyroidism (PHP) have been reported...
  41. doi request reprint Clinical reasoning: shuddering attacks in infancy
    Daniel Tibussek
    Department of General Pediatrics, Division of Paediatric Neurology, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstr 5, D 40225 Dusseldorf, Germany
    Neurology 70:e38-41. 2008
  42. doi request reprint Richner-Hanhart syndrome detected by expanded newborn screening
    Thomas Meissner
    Department of General Pediatrics, University Children s Hospital Düsseldorf, Dusseldorf, Germany
    Pediatr Dermatol 25:378-80. 2008
    ..This demonstrates that early diagnosis of Richner-Hanhart syndrome is possible in neonates by extended newborn screening. Early introduction of dietary treatment is a prerequisite to reduce the risk of clinical symptoms...
  43. doi request reprint Splenic infarction in a patient hereditary spherocytosis, protein C deficiency and acute infectious mononucleosis
    Christian Breuer
    Pediatric Infectious Diseases, Department of General Pediatrics, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    Eur J Pediatr 167:1449-52. 2008
    ..Since infectious mononucleosis is a common cause for clinical consultations in adolescence, physicians caring for children with hematologic disorders should be particularly aware of those possible complications...
  44. doi request reprint Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy
    Anne Koy
    Department of General Paediatrics, University Children s Hospital, Dusseldorf, Germany
    Dev Med Child Neurol 53:1154-6. 2011
    ..This case demonstrates that GLUT1-DS should be investigated in individuals with unexplained developmental delay. Epilepsy is not a mandatory symptom. The ketogenic diet is also beneficial for non-epileptic symptoms in GLUT1-DS...
  45. ncbi request reprint 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...
  46. ncbi request reprint Disseminated pilocytic astrocytoma involving brain stem and diencephalon: a history of atypical eating disorder and diagnostic delay
    Felix Distelmaier
    Department of General Pediatrics, Heinrich Heine University, Dusseldorf, Germany
    J Neurooncol 79:197-201. 2006
    ..We discuss the importance of tumor multifocality and the role of patient age in the clinical presentation with reference to the literature...
  47. ncbi request reprint A decreasing rate of neural tube defects following the recommendations for periconceptional folic acid supplementation
    Anne Klusmann
    Department of General Paediatrics, Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    Acta Paediatr 94:1538-42. 2005
    ..In 1995, the supplementation of folic acid periconceptionally was officially recommended in Germany. The impact of the recommendations on the rate of NTDs was assessed...
  48. pmc C. elegans ATAD-3 is essential for mitochondrial activity and development
    Michael Hoffmann
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    PLoS ONE 4:e7644. 2009
    ..Mammalian ATAD3 is a mitochondrial protein, which is thought to play an important role in nucleoid organization. However, its exact function is still unresolved...
  49. doi request reprint Adolescent ischemic stroke associated with anabolic steroid and cannabis abuse
    Tarik El Scheich
    University of Dusseldorf, Dusseldorf, Germany
    J Pediatr Endocrinol Metab 26:161-5. 2013
    ..Owing to new upcoming socio-behavioral aspects of late childhood and early adolescent life, this formally rare abuse of cannabis and/or anabolic steroids as well as their associations with strokes becomes more current than ever...
  50. doi request reprint Non-enhanced ECG-gated respiratory-triggered 3-D steady-state free-precession MR angiography with slab-selective inversion: initial experience in visualisation of renal arteries in free-breathing children without renal artery abnormality
    Dirk Klee
    Department of Diagnostic and Interventional Radiology, University Düsseldorf, Medical Faculty, Moorenstr 5, 40225, Dusseldorf, Germany
    Pediatr Radiol 42:785-90. 2012
    ..ECG-gated non-enhanced balanced steady-state free precession (bSSFP) MR angiography requires neither breath-holding nor administration of contrast material...
  51. doi request reprint Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene
    Anne Koy
    Department of General Pediatrics and Neonatology, University Children s Hospital, Dusseldorf, Germany
    Pediatr Neurol 46:407-9. 2012
    ..Patients should be screened for riboflavin deficiency and a therapy with riboflavin may provide effective treatment in some affected patients...
  52. ncbi request reprint 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)...
  53. doi request reprint Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin
    Sibylle Eigelshoven
    Department of Dermatology, Heinrich Heine University, Dusseldorf, Germany
    Pediatr Dermatol 26:759-61. 2009
    ..Early diagnosis of Waardenburg syndrome among children with pigment anomalies enables a successful interdisciplinary medical care...
  54. doi request reprint Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1
    Jan Ulrich Schlump
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, Dusseldorf, Germany
    Eur J Pediatr 169:569-72. 2010
    ..In most countries, hereditary tyrosinemia type 1 is not included in routine newborn screening...
  55. doi request reprint Urinary excretion of pentose phosphate pathway-associated polyols in early postnatal life
    Anne Koy
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    Neonatology 95:256-61. 2009
    ..These defects are characterized by accumulation of specific polyols in body fluids. Little is known about human polyol metabolism, but there are indications for a physiological role primarily during early development...
  56. ncbi request reprint Urinary excretion of the nitrotyrosine metabolite 3-nitro-4-hydroxyphenylacetic acid in preterm and term infants
    Thomas Hoehn
    Neonatology and Paediatric Intensive Care Medicine, Department of General Paediatrics, Heinrich Heine University, Dusseldorf, Germany
    Neonatology 93:73-6. 2008
    ..Nitrative stress is predominantly caused following synthesis of peroxynitrite. Particularly preterm infants with immature defense mechanisms against free radical injury appear at risk...
  57. ncbi request reprint "How much brain is really necessary?" A case of complex cerebral malformation and its clinical course
    Felix Distelmaier
    Department of General Pediatrics, Heinrich Heine University, Dusseldorf, Germany
    J Child Neurol 22:756-60. 2007
    ..This case illustrates that the morphological classification of cerebral malformations does not allow one to predict with certainty whether a child will develop impaired motor and/or higher cognitive functions...
  58. doi request reprint Liver fibrosis in recessive multicystic kidney diseases: transient elastography for early detection
    Sebastian Kummer
    Department of General Pediatrics, University Children s Hospital Düsseldorf, Dusseldorf, Germany
    Pediatr Nephrol 26:725-31. 2011
    ..This could facilitate diagnosis, monitoring, and management of liver involvement in ARPKD or any other cystic kidney disease...
  59. ncbi request reprint [Situation of adult patients with inborn errors of metabolism. A survey in Germany]
    Björn Hoffmann
    Klinik fur Allgemeine Padiatrie, Heinrich Heine Universitat, Dusseldorf
    Med Klin (Munich) 100:617-23. 2005
    ..Many patients have reached adulthood already, and thus may be attended by adult physicians. In this study the authors evaluated the situation of adult patients with metabolic diseases in Germany...
  60. ncbi request reprint Status epilepticus due to attempted suicide with isoniazid
    Daniel Tibussek
    Department of General Paediatrics, University Children s Hospital, Moorenstrasse 5, 40225 Dusseldorf, Germany
    Eur J Pediatr 165:136-7. 2006
  61. ncbi request reprint Arginase-1 overexpression induces cationic amino acid transporter-1 in psoriasis
    Oliver Schnorr
    Institute for Biochemistry and Molecular Biology I, Building 22 03, Heinrich Heine University Duesseldorf, Universitaetsstr 1, D 40225 Duesseldorf, Germany
    Free Radic Biol Med 38:1073-9. 2005
    ..In summary, arginase-1 overexpression leads to upregulated CAT-1 expression in psoriatic skin, which is due to lowered intracellular l-arginine levels and limits NO synthesis at physiological l-arginine concentrations...
  62. doi request reprint Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease
    Felix Distelmaier
    Department of Membrane Biochemistry, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Brain 132:833-42. 2009
    ....
  63. ncbi request reprint Diagnostic delay of NF1 in hemifacial hypertrophy due to plexiform neurofibromas
    Anja Overdiek
    Department of Maxillofacial and Facial Plastic Surgery, Marienhospital, Friedrich Ebert Allee 100, D 52066 Aachen, Germany
    Brain Dev 28:275-80. 2006
    ..A thorough clinical examination of affected patients should focus on typical disease-defining features. Early diagnosis of NF1 can prevent unnecessary treatment at least in some patients...
  64. doi request reprint Teaching NeuroImages: Rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency
    Fabian Baertling
    From the Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital F B, E M, F D, and Department of Diagnostic and Interventional Radiology J S, Heinrich Heine University, Dusseldorf, Germany
    Neurology 81:e10-1. 2013
    ..Of note, leukoencephalopathy is uncommon in mitochondrial complex I mutations but may be a feature of NDUFS1 defects.(2.) ..
  65. ncbi request reprint Liver cirrhosis in glycogen storage disease Ib
    Fabian Baertling
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital Duesseldorf, Heinrich Heine University, Moorenstr 5, D 40225 Duesseldorf, Germany
    Mol Genet Metab 108:198-200. 2013
    ..We report for the first time on the development of liver cirrhosis in a nine-year-old boy in the course of glycogen storage disease Ib and discuss possible underlying pathomechanisms...
  66. doi request reprint Crossed cerebellar diaschisis after status epilepticus in a young child
    Anne Koy
    Department of General Pediatrics and Neonatology, University Children s Hospital Düsseldorf, Dusseldorf, Germany
    Neuropediatrics 43:55-8. 2012
    ..This case presents a young child with a combination of two CCDs, at first due to perinatal brain injury, and at second to SE. MRI with diffusion-weighted sequences can detect CCD at an early stage...
  67. ncbi request reprint Schwann cells from human neurofibromas show increased proliferation rates under the influence of progesterone
    Anja Overdiek
    Department of General Pediatrics, University Children s Hospital Duesseldorf, D 40225 Duesseldorf, Germany
    Pediatr Res 64:40-3. 2008
    ..These data suggest that progesterone plays an important role in the development of neurofibromas in NF1...
  68. ncbi request reprint A prospective clinical pilot-trial comparing the effect of an optimized mixed diet versus a flexible low-glycemic index diet on nutrient intake and HbA(1c) levels in children with type 1 diabetes
    Jan Marquard
    Department of General Pediatrics, University Children s Hospital Duesseldorf, Duesseldorf, Germany
    J Pediatr Endocrinol Metab 24:441-7. 2011
    ..Low-glycemic index (GI) diet vs. high-GI diet improves glycemic control, but it is not clear whether a low-GI diet is superior to an optimized mixed diet (OMD)...
  69. doi request reprint Effect of the introduction of diagnosis related group systems on the distribution of admission weights in very low birthweight infants
    Sylvie Abler
    Neonatology and Pediatric Intensive Care Medicine, Department of General Pediatrics, Heinrich Heine University, Moorenstrasse 5, Duesseldorf, Germany
    Arch Dis Child Fetal Neonatal Ed 96:F186-9. 2011
    ..Modifications of admission weights could significantly affect reimbursement in either direction...
  70. ncbi request reprint Odd-numbered long-chain fatty acids in erythrocyte phospholipids as long-term follow-up parameter in propionic acidemia
    Thomas Meissner
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    Clin Chem Lab Med 42:1005-8. 2004
    ....
  71. doi request reprint Cerebellar hemorrhage in extremely low birth weight siblings: is there a familial disposition?
    Hemmen Sabir
    Neonatology and Pediatric Intensive Care Medicine, Department of General Pediatrics, Heinrich Heine University, Duesseldorf, Germany
    J Child Neurol 26:767-9. 2011
    ..There might be a hint to a familial disposition. Neonatal cranial ultrasound protocols should include brainstem and posterior fossa examination with specific scans through the mastoid fontanel...
  72. doi request reprint Liquid chromatography tandem mass spectrometry method for the quantitation of NTBC (2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione) in plasma of tyrosinemia type 1 patients
    Diran Herebian
    Department of General Paediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Germany
    J Chromatogr B Analyt Technol Biomed Life Sci 877:1453-9. 2009
    ..5-40 microM and the determined correlation coefficients were r(2)>or=0.995. This presented method is rapid, sensitive, specific and suitable for clinical practice and research...
  73. ncbi request reprint Exchange transfusion in a preterm infant with hyperbilirubinemia, staphylococcal scalded skin syndrome (SSSS) and sepsis
    Tobias Tenenbaum
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstr 5, 40225 Dusseldorf, Germany
    Eur J Pediatr 166:733-5. 2007
  74. doi request reprint Correlation between severity of disease and reimbursement of costs in neonatal and paediatric intensive care patients
    Thomas Hoehn
    Department of General Pediatrics, Heinrich Heine University, Duesseldorf, Germany
    Acta Paediatr 97:1438-42. 2008
    ..The aim of the present study was to investigate the correlation between neonatal, paediatric and adult disease severity scores and reimbursement by health insurances...
  75. ncbi request reprint Long-term follow-up of 114 patients with congenital hyperinsulinism
    Thomas Meissner
    Clinic of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    Eur J Endocrinol 149:43-51. 2003
    ..The term congenital hyperinsulinism (CHI) comprises a group of different genetic disorders with the common finding of recurrent episodes of hyperinsulinemic hypoglycemia...
  76. pmc Early clinical experiences with the new influenza A (H1N1/09)
    Ralf Winzer
    Klinik fur Gastroenterologie, Hepatologie und Infektiologie, Universitatsklinikum Dusseldorf, Dusseldorf, Germany
    Dtsch Arztebl Int 106:770-6. 2009
    ..This means that the spread of the disease must be closely monitored...
  77. 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...
  78. doi request reprint Hereditary sensory and autonomic neuropathy with autonomic crises: a Turkish variant of familial dysautonomia?
    Anne Koy
    Department of General Pediatrics, University Children s Hospital Düsseldorf, Germany
    J Child Neurol 27:191-6. 2012
    ..However, the occurrence of the 2 cases within 1 kindred makes a common genetic background likely. We, therefore, propose a Turkish variant of familial dysautonomia in these 2 patients...
  79. ncbi request reprint Hunter disease before and during enzyme replacement therapy
    Björn Hoffmann
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    Pediatr Neurol 45:181-4. 2011
    ..We conclude that all patients with mucopolysaccharidosis type II (those with and without clinical central nervous system involvement) may benefit from enzyme replacement therapy...
  80. pmc Therapy-refractory gastrointestinal motility disorder in a child with c-kit mutations
    Christian Breuer
    Department of General Pediatrics, University Children s Hospital, Moorenstr 5, 40225 Dusseldorf, Germany
    World J Gastroenterol 16:4363-6. 2010
    ..Therefore, these findings provide a new explanation for congenital alterations of ICC development that result in gastrointestinal motility disorders...
  81. ncbi request reprint Invasive nontypeable Haemophilus influenzae infections in Germany: a case report of a previously healthy 7-year-old boy with an intracranial abscess, and epidemiological data from 2001 to 2004
    Anna Sandqvist
    Pediatric Infectious Diseases, Department of General Pediatrics, Heinrich Heine University Dusseldorf, Moorenstr 5, 40225 Dusseldorf, Germany
    Eur J Pediatr 165:658-9. 2006
  82. pmc Fabry disease-often seen, rarely diagnosed
    Björn Hoffmann
    Klinik fur Allgemeine Padiatrie, Universitatsklinikum Dusseldorf, Heinrich Heine Universitat, Dusseldorf, Germany
    Dtsch Arztebl Int 106:440-7. 2009
    ..Its clinical manifestations are very diverse, and its differential diagnosis is correspondingly broad. Thus, there is often a delay before the diagnosis of Fabry disease is established...
  83. ncbi request reprint 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
    ....
  84. ncbi request reprint Pseudotumor cerebri as an important differential diagnosis of papilledema in children
    Felix Distelmaier
    Department of General Pediatrics, Heinrich Heine University Dusseldorf, Moorenstr 5, D 40225 Dusseldorf, Germany
    Brain Dev 28:190-5. 2006
    ..Visual loss is a serious complication, which requires careful monitoring and management...
  85. ncbi request reprint Early peristalsis following epidural analgesia during abdominal surgery in an extremely low birth weight infant
    Thomas Hoehn
    Neonatology and Pediatric Intensive Care Medicine, Department of General Pediatrics, Heinrich Heine Universiry, Dusseldorf, Germany
    Paediatr Anaesth 17:176-9. 2007
    ..We speculate that intestinal motility and establishment of full enteral feedings may be achieved earlier by epidural ropivacaine in cases of abdominal surgery in ELBW infants...
  86. doi request reprint Neonatal pleural empyema in an extremely low birth weight infant
    Klaus Lohmeier
    Department of General Pediatrics, Heinrich Heine University Duesseldorf, Moorenstrasse 5, 40225 Duesseldorf, Germany
    J Matern Fetal Neonatal Med 22:940-2. 2009
    ..Chest drainage or percutaneous aspiration was not feasible. Noninvasive treatment might represent an acceptable option in premature infants...
  87. ncbi request reprint Persistent right umbilical vein associated with complex congenital cardiac malformation
    Thomas Hoehn
    Neonatology and Pediatric Intensive Care Medicine, Department of General Pediatrics, Heinrich Heine University, Moorenstrasse 5, D 40225 Duesseldorf, Germany
    Am J Perinatol 23:181-2. 2006
    ..The presence of PRUV can be the only clue prenatally alerting to the presence of congenital heart disease. Postnatal diagnosis of PRUV may justify echocardiography and cardiologic assessment even in the absence of clinical cyanosis...
  88. ncbi request reprint 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...
  89. 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
    ....
  90. ncbi request reprint Osmotic regulation of betaine homocysteine-S-methyltransferase expression in H4IIE rat hepatoma cells
    Christine Schafer
    Clinic for Gastroenterology, Hepatology, and Infectiology, Dusseldorf, Germany
    Am J Physiol Gastrointest Liver Physiol 292:G1089-98. 2007
    ..The osmotic regulation of BHMT may be part of a cell volume-regulatory response and additionally lead to metabolic alterations that depend on the availability of betaine-derived methyl groups...
  91. ncbi request reprint Role of leukotrienes as indicators of the inflammatory demyelinating reaction in x-linked cerebral adrenoleukodystrophy
    Ertan Mayatepek
    J Neurol 250:1259-60. 2003
  92. ncbi request reprint Coenzyme Q10 in plasma and erythrocytes: comparison of antioxidant levels in healthy probands after oral supplementation and in patients suffering from sickle cell anemia
    Petra Niklowitz
    Vestische Kinderklinik Datteln, University Witten Herdecke, Dr Friedrich Steiner Str 5, D 45711 Datteln, Germany
    Clin Chim Acta 326:155-61. 2002
    ..The membrane-associated antioxidant coenzyme Q10 (CoQ10) or ubiquinone-10 is frequently measured in serum or plasma. However, little is known about the total contents or redox status of CoQ10 in blood cells...
  93. ncbi request reprint Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation
    Markus Schuelke
    Department Neuropediatrics, Charite University Hospital, Berlin, Germany
    Ann Neurol 51:388-92. 2002
    ..A HESX1 mutation was excluded as a cause of his septo-optic dysplasia. Low alpha-tocopherol concentrations in his muscles and an elevated urinary leukotriene E(4) excretion indicate increased production of reactive oxygen species...
  94. ncbi request reprint Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation
    Katharina Wimmer
    Department of Human Genetics, Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Vienna, Austria
    Pediatr Res 58:1265-8. 2005
    ..Molecular genetic testing identified a novel NF1 mutation and, thus, enabled a confident NF1 diagnosis despite the unusual phenotypical presentation in this patient...
  95. ncbi request reprint Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of leukotrienes
    Sacha Ferdinandusse
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, P O Box 22700, 1105 AZ Amsterdam, The Netherlands
    Biochem Biophys Res Commun 293:269-73. 2002
    ....
  96. ncbi request reprint 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
    ..Our aim was to describe the clinical picture of adolescent patients with mevalonate kinase deficiency and to expand the clinical and biochemical spectrum of mevalonate kinase deficiency, particularly with regard to HIDS...
  97. ncbi request reprint Urinary leukotriene E4 levels in children with allergic rhinitis treated with specific immunotherapy and anti-IgE (Omalizumab)
    Matthias Volkmar Kopp
    University Children Hospital, Freiburg, Germany
    Pediatr Allergy Immunol 14:401-4. 2003
    ..2; B: 36.5 nmol/mol creatinine), during (A: 27.0; B: 29.3) and after treatment (A: 28.9; B: 26.5 nmol/mol creatinine). We conclude that urinary LTE4 levels are not helpful in monitoring patients treated with anti-IgE and SIT...
  98. ncbi request reprint Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik
    Claudia E Grubenmann
    Institute of Physiology, University of Zurich, Zurich, Switzerland
    Hum Mol Genet 13:535-42. 2004
    ..The ALG1 mannosyltransferase defect described here represents a novel type of CDG, which should be referred to as CDG-Ik...
  99. ncbi request reprint Elevated urinary excretion of nitric oxide metabolites in young infants with Zellweger syndrome
    Andrzej Surdacki
    Institute of Clinical Pharmacology, Hannover Medical School, Carl Neuberg Strasse 1, 30625, Hannover, Germany
    Clin Chim Acta 334:111-5. 2003
    ..This pathway may interact in vivo with the L-arginine/nitric oxide (NO) pathway. The aim of this study was to investigate NO production in ZS...
  100. ncbi request reprint Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase
    Nuria Casals
    Unit of Biochemistry and Molecular Biology, International University of Catalonia, Spain
    J Biol Chem 278:29016-23. 2003
    ..We also report the localization of all missense mutations reported to date and show that these mutations are located in the beta-sheets around the substrate cavity...
  101. ncbi request reprint 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...