J. Zeman

发表

Di- and trihydroxycholestanaemia in twin sisters

R. Wanders, R. Schutgens, M. Casteels, 1991, Journal of Inherited Metabolic Disease.

Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the 'Prague NCL group'.

J. Zeman, J. Kraus, J. Franc, 1997, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Prolonged impairment of polymorphonuclear cells functions in one infant with transient zinc deficiency: a case report.

J. Zeman, T. Honzík, S. Polásková, 2008, Prague medical report.

A new case of ALG8 deficiency (CDG Ih)

T. Hennet, K. Vesela, J. Zeman, 2009, Journal of Inherited Metabolic Disease.

Homocystinuria due to cystathionine β‐synthase deficiency: Novel biochemical findings and treatment efficacy

J. Zeman, O. Bodamer, O. Bodamer, 2003 .

Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development.

M. Tesařová, V. Havlíčková, J. Zeman, 2010, Mitochondrion.

Intellectual and school performance in adolescents with phenylketonuria according to their dietary compliance

J. Zeman, A. Pijáčková, J. Hyánek, 2009, European Journal of Pediatrics.

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic

K. Stehlikova, P. Vondracek, L. Fajkusová, 2017, Clinical genetics.

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study

J. Zeman, K. Sandhoff, M. Elleder, 2005, Journal of Inherited Metabolic Disease.

Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene.

T. Zima, M. Tesařová, J. Zeman, 2014, Folia biologica.

Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene

M. Tesařová, H. Hansíková, J. Zeman, 2004, Acta paediatrica.

Fumaric aciduria: Mild phenotype in a 8-year-old girl with novel mutations

M. Tesařová, J. Zeman, I. Barić, 2006, Journal of Inherited Metabolic Disease.

X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.

J. Zeman, M. Hřebíček, L. Dvořáková, 2016, Folia biologica.

Bone mineral density in patients with phenylketonuria

J. Zeman, J. Stepan, M. Bayer, 1999, Acta paediatrica.