Zschocke J - Search Results

1

Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency.

Lindner M, Steinfeld R, Burgard P, Schulze A, Mayatepek E, Zschocke J. Lindner M, et al. Among authors: zschocke j. Hum Mutat. 2003 Apr;21(4):400. doi: 10.1002/humu.9117. Hum Mutat. 2003. PMID: 12655554

2

Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis.

Zschocke J, Graham CA, Stewart FJ, Carson DJ, Nevin NC. Zschocke J, et al. Hum Mutat. 1994;4(2):114-8. doi: 10.1002/humu.1380040204. Hum Mutat. 1994. PMID: 7981714

3

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

Guldberg P, Rey F, Zschocke J, Romano V, François B, Michiels L, Ullrich K, Hoffmann GF, Burgard P, Schmidt H, Meli C, Riva E, Dianzani I, Ponzone A, Rey J, Güttler F. Guldberg P, et al. Among authors: zschocke j. Am J Hum Genet. 1998 Jul;63(1):71-9. doi: 10.1086/301920. Am J Hum Genet. 1998. PMID: 9634518 Free PMC article.

4

Phenylketonuria mutations in Germany.

Zschocke J, Hoffmann GF. Zschocke J, et al. Hum Genet. 1999 May;104(5):390-8. doi: 10.1007/s004390050973. Hum Genet. 1999. PMID: 10394930

5

Mild trimethylaminuria caused by common variants in FMO3 gene.

Zschocke J, Kohlmueller D, Quak E, Meissner T, Hoffmann GF, Mayatepek E. Zschocke J, et al. Lancet. 1999 Sep 4;354(9181):834-5. doi: 10.1016/s0140-6736(99)80019-1. Lancet. 1999. PMID: 10485731

6

Biochemical and molecular studies in mild flavin monooxygenase 3 deficiency.

Zschocke J, Mayatepek E. Zschocke J, et al. J Inherit Metab Dis. 2000 Jun;23(4):378-82. doi: 10.1023/a:1005647701321. J Inherit Metab Dis. 2000. PMID: 10896299 No abstract available.

7

Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism.

Zschocke J, Ruiter JP, Brand J, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E. Zschocke J, et al. Pediatr Res. 2000 Dec;48(6):852-5. doi: 10.1203/00006450-200012000-00025. Pediatr Res. 2000. PMID: 11102558

8

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.

Lindner M, Haas D, Mayatepek E, Zschocke J, Burgard P. Lindner M, et al. Among authors: zschocke j. Mol Genet Metab. 2001 May;73(1):104-6. doi: 10.1006/mgme.2001.3168. Mol Genet Metab. 2001. PMID: 11350190

9

Molecular and functional characterisation of mild MCAD deficiency.

Zschocke J, Schulze A, Lindner M, Fiesel S, Olgemöller K, Hoffmann GF, Penzien J, Ruiter JP, Wanders RJ, Mayatepek E. Zschocke J, et al. Hum Genet. 2001 May;108(5):404-8. doi: 10.1007/s004390100501. Hum Genet. 2001. PMID: 11409868

10

Genetic basis of mitochondrial HMG-CoA synthase deficiency.

Aledo R, Zschocke J, Pié J, Mir C, Fiesel S, Mayatepek E, Hoffmann GF, Casals N, Hegardt FG. Aledo R, et al. Among authors: zschocke j. Hum Genet. 2001 Jul;109(1):19-23. doi: 10.1007/s004390100554. Hum Genet. 2001. PMID: 11479731

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