Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia

Por Kasim, S, Moo, L, Zschocke, J, Jinnah, H
Publicado em 2001

Nature and nurture in vitamin B(12) deficiency

Por Zschocke, J, Schindler, S, Hoffmann, G, Albani, M
Publicado em 2002

Mutation analysis in glutaric aciduria type I

Por Zschocke, J., Quak, E., Guldberg, P., Hoffmann, G.
Publicado em 2000

Interleukin 1 blockade withcanakinumab for Hyper IGD syndrome (HIDS)

Por Brunnner, J, Binder, E, Karall, D, Zschocke, J, Fauth, C
Publicado no Pediatr Rheumatol Online J (2015)

Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age

Por Burgard, P., Mönch, E., Zschocke, J., Wendel, U., Langenbeck, U.
Publicado no JIMD Rep (2015)

Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach.

Por Zschocke, J, Graham, C A, Carson, D J, Nevin, N C
Publicado em 1995

Effect of genotype on changes in intelligence quotient after dietary relaxation in phenylketonuria and hyperphenylalaninaemia

Por Greeves, L., Patterson, C., Carson, D., Thom, R., Wolfenden, M., Zschocke, J., Graham, C., Nevin, N., Trimble, E.
Publicado em 2000

Pyridoxal phosphate-dependent neonatal epileptic encephalopathy

Por Bagci, S, Zschocke, J, Hoffmann, G F, Bast, T, Klepper, J, Müller, A, Heep, A, Bartmann, P, Franz, A R
Publicado em 2009

Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects.

Por Tyfield, L A, Zschocke, J, Stephenson, A, Cockburn, F, Harvie, A, Bidwell, J L, Wood, N A, Hunt, L P
Publicado em 1995

Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts

Por Haas, D, Morgenthaler, J, Lacbawan, F, Long, B, Runz, H, Garbade, S F, Zschocke, J, Kelley, R I, Okun, J G, Hoffmann, G F, Muenke, M
Publicado em 2007

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

Por Guldberg, P, Rey, F, Zschocke, J, Romano, V, François, B, Michiels, L, Ullrich, K, Hoffmann, G F, Burgard, P, Schmidt, H, Meli, C, Riva, E, Dianzani, I, Ponzone, A, Rey, J, Güttler, F
Publicado em 1998