AAAAAA
Results:
1-25
|
Results: 25
Authors:
Lindner, M
Haas, D
Zschocke, J
Burgard, P
Citation: M. Lindner et al., Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype, MOL GEN MET, 73(1), 2001, pp. 104-106
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
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
Authors:
Rupp, A
Kreis, R
Zschocke, J
Slotboom, J
Boesch, C
Rating, D
Pietz, J
Citation: A. Rupp et al., Variability of blood-brain ratios of phenylalanine in typical patients with phenylketonuria, J CEREBR B, 21(3), 2001, pp. 276-284
Authors:
Weglage, J
Pietsch, M
Feldmann, R
Koch, HG
Zschocke, J
Hoffmann, G
Muntau-Heger, A
Denecke, J
Guldberg, P
Guttler, F
Moller, H
Wendel, U
Ullrich, K
Harms, E
Citation: J. Weglage et al., Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia, PEDIAT RES, 49(4), 2001, pp. 532-536
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
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
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
Authors:
Kasim, S
Moo, LR
Zschocke, J
Jinnah, HA
Citation: S. Kasim et al., Phenylketonuria presenting in adulthood as progressive spastic paraparesiswith dementia, J NE NE PSY, 71(6), 2001, pp. 795-797
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
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
Authors:
Schrage, NF
Langefeld, S
Zschocke, J
Kuckelkorn, R
Redbrake, C
Reim, M
Citation: Nf. Schrage et al., Eye burns: an emergency and continuing problem, BURNS, 26(8), 2000, pp. 689-699
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
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
Authors:
Zschocke, J
Ruiter, JPN
Brand, J
Lindner, M
Hoffmann, GF
Wanders, RJA
Mayatepek, E
Citation: J. Zschocke et al., Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: A novel inborn error of branched-chain fatty acid and isoleucine metabolism, PEDIAT RES, 48(6), 2000, pp. 852-855
Authors:
Zschocke, J
Quak, E
Guldberg, P
Hoffmann, GF
Citation: J. Zschocke et al., Mutation analysis in glutaric aciduria type I, J MED GENET, 37(3), 2000, pp. 177-181
Authors:
Greeves, LG
Patterson, CC
Carson, DJ
Thom, R
Wolfenden, MC
Zschocke, J
Graham, CA
Nevin, NC
Trimble, ER
Citation: Lg. Greeves et al., Effect of genotype on changes in intelligence quotient after dietary relaxation in phenylketonuria and hyperphenylalaninaemia, ARCH DIS CH, 82(3), 2000, pp. 216-221
Authors:
Nyhan, WL
Zschocke, J
Hoffmann, G
Stein, DE
Bao, LM
Goodman, S
Citation: Wl. Nyhan et al., Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria, MOL GEN MET, 66(3), 1999, pp. 199-204
Authors:
Zschocke, J
Hoffmann, GF
Citation: J. Zschocke et Gf. Hoffmann, Phenylketonuria mutations in Germany, HUM GENET, 104(5), 1999, pp. 390-398
Authors:
Zschocke, J
Koch, G
Hoffmann, GF
Citation: J. Zschocke et al., Urinary excretion of Krebs cycle metabolites in a 13-year-old girl, J INH MET D, 22(8), 1999, pp. 945-945
Authors:
Zschocke, J
Quak, E
Knauer, A
Fritz, B
Aslan, M
Hoffmann, GF
Citation: J. Zschocke et al., Large heterozygous deletion masquerading as homozygous missense mutation: A pitfall in diagnostic mutation analysis, J INH MET D, 22(6), 1999, pp. 687-692
Authors:
Hoffmann, GF
Zschocke, J
Citation: Gf. Hoffmann et J. Zschocke, Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapy, J INH MET D, 22(4), 1999, pp. 381-391
Authors:
Liesert, M
Zschocke, J
Hoffmann, GF
Muhlhauser, N
Buckel, W
Citation: M. Liesert et al., Biochemistry of glutaric aciduria type I: Activities of in vitro expressedwild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase, J INH MET D, 22(3), 1999, pp. 256-258
Authors:
Shin, YS
Zschocke, J
Das, AM
Podskarbi, T
Citation: Ys. Shin et al., Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase, J INH MET D, 22(3), 1999, pp. 327-329
Authors:
Zschocke, J
Kohlmueller, D
Quak, E
Meissner, T
Hoffmann, GF
Mayatepek, E
Citation: J. Zschocke et al., Mild trimethylaminuria caused by common variants in FMO3 gene, LANCET, 354(9181), 1999, pp. 834-835
Risultati:
1-25
|