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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.
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.
Tighe O, Dunican D, O'Neill C, Bertorelle G, Beattie D, Graham C, Zschocke J, Cali F, Romano V, Hrabincova E, Kozak L, Nechyporenko M, Livshits L, Guldberg P, Jurkowska M, Zekanowski C, Perez B, Desviat LR, Ugarte M, Kucinskas V, Knappskog P, Treacy E, Naughten E, Tyfield L, Byck S, Scriver CR, Mayne PD, Croke DT. Tighe O, et al. Among authors: zschocke j. Hum Mutat. 2003 Apr;21(4):387-93. doi: 10.1002/humu.10195. Hum Mutat. 2003. PMID: 12655548
Mutation analysis in glutaric aciduria type I.
Zschocke J, Quak E, Guldberg P, Hoffmann GF. Zschocke J, et al. J Med Genet. 2000 Mar;37(3):177-81. doi: 10.1136/jmg.37.3.177. J Med Genet. 2000. PMID: 10699052 Free PMC article.
Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia.
Weglage J, Pietsch M, Feldmann R, Koch HG, Zschocke J, Hoffmann G, Muntau-Heger A, Denecke J, Guldberg P, Güttler F, Möller H, Wendel U, Ullrich K, Harms E. Weglage J, et al. Among authors: zschocke j. Pediatr Res. 2001 Apr;49(4):532-6. doi: 10.1203/00006450-200104000-00015. Pediatr Res. 2001. PMID: 11264437
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
Clinical utility gene card for: Phenylketonuria.
Zschocke J, Haverkamp T, Møller LB. Zschocke J, et al. Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.172. Epub 2011 Sep 14. Eur J Hum Genet. 2012. PMID: 21915151 Free PMC article. No abstract available.
Phenylketonuria mutations in Europe.
Zschocke J. Zschocke J. Hum Mutat. 2003 Apr;21(4):345-56. doi: 10.1002/humu.10192. Hum Mutat. 2003. PMID: 12655544 Review.
350 results