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Results: 1-25 | 26-49
Results: 1-25/49
Molecular genetics of type 1 glycogen storage disease
Authors: Janecke, AR Mayatepek, E Utermann, G
Citation: Ar. Janecke et al., Molecular genetics of type 1 glycogen storage disease, MOL GEN MET, 73(2), 2001, pp. 117-125
Potentiation of 3-hydroxyglutarate neurotoxicity following induction of astrocytic iNOS in neonatal rat hippocampal cultures
Authors: Kolker, S Ahlemeyer, B Huhne, R Mayatepek, E Krieglstein, J Hoffmann, GF
Citation: S. Kolker et al., Potentiation of 3-hydroxyglutarate neurotoxicity following induction of astrocytic iNOS in neonatal rat hippocampal cultures, EUR J NEURO, 13(11), 2001, pp. 2115-2122
delta-storage pool disease in infancy with absence of blood serotonin associated with psychomotor retardation
Authors: Engelmann, G Morgenstern, E Wolf, N Mayatepek, E
Citation: G. Engelmann et al., delta-storage pool disease in infancy with absence of blood serotonin associated with psychomotor retardation, PED HEM ONC, 18(5), 2001, pp. 355-357
Hyperinsulinism in syndromal disorders
Authors: Meissner, T Rabl, W Mohnike, K Scholl, S Santer, R Mayatepek, E
Citation: T. Meissner et al., Hyperinsulinism in syndromal disorders, ACT PAEDIAT, 90(8), 2001, pp. 856-859
Genetic basis of mitochondrial HMG-CoA synthase deficiency
Authors: Aledo, R Zschocke, J Pie, J Mir, C Fiesel, S Mayatepek, E Hoffmann, GF Casals, N Hegardt, FG
Citation: R. Aledo et al., Genetic basis of mitochondrial HMG-CoA synthase deficiency, HUM GENET, 109(1), 2001, pp. 19-23
Molecular and functional characterisation of mild MCAD deficiency
Authors: Zschocke, J Schulze, A Lindner, M Fiesel, S Olgemoller, K Hoffmann, GF Penzien, J Ruiter, JPN Wanders, RJA Mayatepek, E
Citation: J. Zschocke et al., Molecular and functional characterisation of mild MCAD deficiency, HUM GENET, 108(5), 2001, pp. 404-408
Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome
Authors: Santer, R Kinner, M Passarge, M Superti-Furga, A Mayatepek, E Meissner, T Schneppenheim, R Schaub, J
Citation: R. Santer et al., Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome, HUM GENET, 108(1), 2001, pp. 66-71
Clinical and biochemical effects of zileuton in patients with the Sjogren-Larsson syndrome
Authors: Willemsen, MAAP Lutt, MAJ Steijlen, PM Cruysberg, JRM van der Graaf, M Nijhuis-van der Sanden, MWG Pasman, JW Mayatepek, E Rotteveel, JJ
Citation: Maap. Willemsen et al., Clinical and biochemical effects of zileuton in patients with the Sjogren-Larsson syndrome, EUR J PED, 160(12), 2001, pp. 711-717
Urinary leukotriene E-4, eosinophil protein X, and nasal eosinophil cationic protein are not associated with respiratory symptoms in 1-year-old children
Authors: Wojnarowski, C Halmerbauer, G Mayatepek, E Gartner, C Frischer, T Forster, J Kuehr, J
Citation: C. Wojnarowski et al., Urinary leukotriene E-4, eosinophil protein X, and nasal eosinophil cationic protein are not associated with respiratory symptoms in 1-year-old children, ALLERGY, 56(9), 2001, pp. 883-888
Postnatal changes in neonatal acylcarnitine profile
Authors: Meyburg, J Schulze, A Kohlmueller, D Linderkamp, O Mayatepek, E
Citation: J. Meyburg et al., Postnatal changes in neonatal acylcarnitine profile, PEDIAT RES, 49(1), 2001, pp. 125-129
On being a child and having children with the changing times
Authors: Aksu, F Thyen, U Hanefeld, F Auerswald, G Christen, HJ Faust, J Gabriel, R Genzel, O Haas, D Hasselmann, O Heinen, F Karch, D Kirschstein, M Kluger, G Korn-Merker, E Krageloh-Mann, I Marg, W Mayatepek, E Meissner, T Niemann, G Pust, B Schmitt, B Schoening, M Schulze, A Sperner, J Tegtmeyer, FK Weisert, M Wiebicke, W Wilken, B Zschocke, J Bentele, K Schinzel, A Strassburg, M
Citation: F. Aksu et al., On being a child and having children with the changing times, MONATS KIND, 149(6), 2001, pp. 594-596
Defective metabolism of Leukotriene B-4 in the Sjogren-Larsson Syndrome
Authors: Willemsen, MAAP Rotteveel, JJ de Jong, JGN Wanders, RJA IJlst, L Hoffmann, GF Mayatepek, E
Citation: Maap. Willemsen et al., Defective metabolism of Leukotriene B-4 in the Sjogren-Larsson Syndrome, J NEUR SCI, 183(1), 2001, pp. 61-67
Long-term clinical outcome in patients with glutathione synthetase deficiency
Authors: Ristoff, E Mayatepek, E Larsson, A
Citation: E. Ristoff et al., Long-term clinical outcome in patients with glutathione synthetase deficiency, J PEDIAT, 139(1), 2001, pp. 79-84
Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I
Authors: Schulze, A Frommhold, D Hoffmann, GF Mayatepek, E
Citation: A. Schulze et al., Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I, CLIN CHEM, 47(8), 2001, pp. 1424-1429
Intrastriatal administration of 3-hydroxyglutaric acid induces convulsionsand striatal lesions in rats
Authors: de Mello, CF Kolker, S Ahlemeyer, B de Souza, FR Fighera, MR Mayatepek, E Krieglstein, J Hoffmann, GF Wajner, M
Citation: Cf. De Mello et al., Intrastriatal administration of 3-hydroxyglutaric acid induces convulsionsand striatal lesions in rats, BRAIN RES, 916(1-2), 2001, pp. 70-75
Clinical, biochemical and molecular genetic characteristics of 19 patientswith the Sjogren-Larsson syndrome
Authors: Willemsen, MAAP Ijlst, L Steijlen, PM Rotteveel, JJ de Jong, JGN van Domburg, PHMF Mayatepek, E Gabreels, FJM Wanders, RJA
Citation: Maap. Willemsen et al., Clinical, biochemical and molecular genetic characteristics of 19 patientswith the Sjogren-Larsson syndrome, BRAIN, 124, 2001, pp. 1426-1437
Increased urinary leukotriene E-4 during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndrome
Authors: Frenkel, J Willemsen, MAAP Weemaes, CMR Dorland, L Mayatepek, E
Citation: J. Frenkel et al., Increased urinary leukotriene E-4 during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndrome, ARCH DIS CH, 85(2), 2001, pp. 158-159
Exercise induced hypoglycaemic hyperinsulinism
Authors: Meissner, T Otonkoski, T Feneberg, R Beinbrech, B Apostolidou, S Sipila, I Schaefer, F Mayatepek, E
Citation: T. Meissner et al., Exercise induced hypoglycaemic hyperinsulinism, ARCH DIS CH, 84(3), 2001, pp. 254-257
Mutation analysis in glycogen storage disease type 1 non-a
Authors: Janecke, AR Lindner, M Erdel, M Mayatepek, E Moslinger, D Podskarbi, T Fresser, F Stockler-Ipsiroglu, S Hoffmann, GF Utermann, G
Citation: Ar. Janecke et al., Mutation analysis in glycogen storage disease type 1 non-a, HUM GENET, 107(3), 2000, pp. 285-289
Leukotriene C-4 synthesis deficiency: a member of a probably underdiagnosed new group of neurometabolic diseases
Authors: Mayatepek, E
Citation: E. Mayatepek, Leukotriene C-4 synthesis deficiency: a member of a probably underdiagnosed new group of neurometabolic diseases, EUR J PED, 159(11), 2000, pp. 811-818
5-lipoxygenase inhibition: A new treatment strategy for Sjogren-Larsson syndrome
Authors: Willemsen, MAAP Rotteveel, JJ Steijlen, PM Heerschap, A Mayatepek, E
Citation: Maap. Willemsen et al., 5-lipoxygenase inhibition: A new treatment strategy for Sjogren-Larsson syndrome, NEUROPEDIAT, 31(1), 2000, pp. 1-3
2-ketoglutarate dehydrogenase deficiency with intermittent 2-ketoglutaric aciduria
Authors: Dunckelmann, RJ Ebinger, F Schulze, A Wanders, RJA Rating, D Mayatepek, E
Citation: Rj. Dunckelmann et al., 2-ketoglutarate dehydrogenase deficiency with intermittent 2-ketoglutaric aciduria, NEUROPEDIAT, 31(1), 2000, pp. 35-38
A case of Perlman syndrome: Fetal gigantism, renal dysplasia, and severe neurological deficits
Authors: Schilke, K Schaefer, F Waldherr, R Rohrschneider, W John, C Himbert, U Mayatepek, E Tariverdian, G
Citation: K. Schilke et al., A case of Perlman syndrome: Fetal gigantism, renal dysplasia, and severe neurological deficits, AM J MED G, 91(1), 2000, pp. 29-33
Biochemical and molecular studies in mild flavin monooxygenase 3 deficiency
Authors: Zschocke, J Mayatepek, E
Citation: J. Zschocke et E. Mayatepek, Biochemical and molecular studies in mild flavin monooxygenase 3 deficiency, J INH MET D, 23(4), 2000, pp. 378-382
Defects in the synthesis of cysteinyl leukotrienes: A new group of inborn errors of metabolism
Authors: Mayatepek, E Zelezny, R Lehmann, WD Hammond, JW Hoffmann, GF
Citation: E. Mayatepek et al., Defects in the synthesis of cysteinyl leukotrienes: A new group of inborn errors of metabolism, J INH MET D, 23(4), 2000, pp. 404-408
Risultati: 1-25 | 26-49