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Results: 1-25 | 26-50 | 51-66
Results: 1-25/66
Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I
Authors: Niiyama, S Koelker, S Degen, I Hoffmann, GF Happle, R Hoffmann, R
Citation: S. Niiyama et al., Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I, EUR J DERM, 11(3), 2001, pp. 244-246
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations
Authors: Witsch-Raumgartner, M Ciara, E Loffler, J Menzel, HJ Seedorf, U Burn, J Gillessen-Kaesbach, G Hoffmann, GF Fitzy, BU Mundy, H Clayton, P Kelley, RI Krajewska-Walasek, M Utermann, G
Citation: M. Witsch-raumgartner et al., Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations, EUR J HUM G, 9(1), 2001, pp. 45-50
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
beta-ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine
Authors: Moolenaar, SH Gohlich-Ratmann, G Engelke, UFH Spraul, M Humpfer, E Dvortsak, P Voit, T Hoffmann, GF Brautigam, C van Kuilenburg, AB van Gennip, A Vreken, P Wevers, RA
Citation: Sh. Moolenaar et al., beta-ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine, MAGN RES M, 46(5), 2001, pp. 1014-1017
Inborn errors of metabolism at the turn of the millennium
Authors: Baric, I Fumic, K Hoffmann, GF
Citation: I. Baric et al., Inborn errors of metabolism at the turn of the millennium, CROAT MED J, 42(4), 2001, pp. 379-383
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
Hyperthyrosis in early childhood and a very rare variant of glutaric aciduria: Coincidence or causal relation?
Authors: Muller, P Buschmann, J Wagner, L Hoffmann, GF
Citation: P. Muller et al., Hyperthyrosis in early childhood and a very rare variant of glutaric aciduria: Coincidence or causal relation?, KLIN PADIAT, 213(1), 2001, pp. 13-16
Successful HLA-identical bone marrow transplantation in a patient with PNPdeficiency using busulfan and fludarabine for conditioning
Authors: Classen, CF Schulz, AS Sigl-Kraetzig, M Hoffmann, GF Simmonds, HA Fairbanks, L Debatin, KM Friedrich, W
Citation: Cf. Classen et al., Successful HLA-identical bone marrow transplantation in a patient with PNPdeficiency using busulfan and fludarabine for conditioning, BONE MAR TR, 28(1), 2001, pp. 93-96
Inherited disorders of cholesterol biosynthesis
Authors: Haas, D Kelley, RI Hoffmann, GF
Citation: D. Haas et al., Inherited disorders of cholesterol biosynthesis, NEUROPEDIAT, 32(3), 2001, pp. 113-122
Myotonic dystrophy associated with VACTERL? A case report
Authors: Kolker, S Degen, I Koch, MC Lindner, M Haas, D Hoffmann, GF
Citation: S. Kolker et al., Myotonic dystrophy associated with VACTERL? A case report, NEUROPEDIAT, 32(1), 2001, pp. 53-54
Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level
Authors: Van Kuilenburg, ABP Van Lenthe, H Assmann, B Gohlich-Ratmann, G Hoffmann, GF Brautigam, C Wevers, RA Van Gennip, AH
Citation: Abp. Van Kuilenburg et al., Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level, J INH MET D, 24(7), 2001, pp. 725-732
Contribution of reactive oxygen species to 3-hydroxyglutarate neurotoxicity in primary neuronal cultures from chick embryo telencephalons
Authors: Kolker, S Ahlemeyer, B Krieglstein, J Hoffmann, GF
Citation: S. Kolker et al., Contribution of reactive oxygen species to 3-hydroxyglutarate neurotoxicity in primary neuronal cultures from chick embryo telencephalons, PEDIAT RES, 50(1), 2001, pp. 76-82
Diagnosis and therapy for unknown metabolism emergencies. A practical guide
Authors: Prietsch, V Zschocke, J Hoffmann, GF
Citation: V. Prietsch et al., Diagnosis and therapy for unknown metabolism emergencies. A practical guide, MONATS KIND, 149(10), 2001, pp. 1078-1087
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
L-dopa and selegiline for tyrosine hydroxylase deficiency
Authors: Haussler, M Hoffmann, GF Vevers, RA
Citation: M. Haussler et al., L-dopa and selegiline for tyrosine hydroxylase deficiency, J PEDIAT, 138(3), 2001, pp. 451-452
Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene
Authors: Kolker, S Ramaekers, VT Zschocke, J Hoffmann, GF
Citation: S. Kolker et al., Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene, J PEDIAT, 138(2), 2001, pp. 277-279
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
Cerebral organic acid disorders induce neuronal damage via excitotoxic organic acids in vitro
Authors: Kolker, S Ahlemeyer, B Krieglstein, J Hoffmann, GF
Citation: S. Kolker et al., Cerebral organic acid disorders induce neuronal damage via excitotoxic organic acids in vitro, AMINO ACIDS, 18(1), 2000, pp. 31-40
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
Mutation analysis in metabolic disease - change in clinical practice?
Authors: Zschocke, J Steinmann, B Hoffmann, GF
Citation: J. Zschocke et al., Mutation analysis in metabolic disease - change in clinical practice?, EUR J PED, 159, 2000, pp. S169-S169
PAH gene mutation analysis in clinical practice comments on mutation analysis anticipates dietary requirements in phenylketonuria
Authors: Zschocke, J Hoffmann, GF
Citation: J. Zschocke et Gf. Hoffmann, PAH gene mutation analysis in clinical practice comments on mutation analysis anticipates dietary requirements in phenylketonuria, EUR J PED, 159, 2000, pp. S154-S155
Atypical and variable clinical presentation of glutaric aciduria type I
Authors: Zafeiriou, DI Zschocke, J Augoustidou-Savvopoulou, P Mauromatis, I Sewell, A Kontopoulos, E Katzos, G Hoffmann, GF
Citation: Di. Zafeiriou et al., Atypical and variable clinical presentation of glutaric aciduria type I, NEUROPEDIAT, 31(6), 2000, pp. 303-306
Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolatereductase deficiency
Authors: Baethmann, M Wendel, U Hoffmann, GF Gohlich-Ratmann, G Kleinlein, B Seiffert, P Blom, H Voit, T
Citation: M. Baethmann et al., Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolatereductase deficiency, NEUROPEDIAT, 31(6), 2000, pp. 314-317
Risultati: 1-25 | 26-50 | 51-66