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mucopolysaccharidosis
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Evženie Pospíšilová
Person without affiliation with CUNI
14 publications
Publications
publication
Mucopolysaccharidosis type II (Hunter disease): Biochemical postnatal and prenatal diagnosis
Publication without faculty affiliation
publication
Analysis of excretion fraction of uric acid
2006 |
First Faculty of Medicine
publication
Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency
2005 |
First Faculty of Medicine
publication
Metabolic compendium 2006
2005 |
First Faculty of Medicine
publication
Differential diagnostics of hyperuricaemia in hereditary metabolic diseases
2005 |
First Faculty of Medicine
publication
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) and Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD): Clinical, Biochemical and Molecular Study in Ten Children
1998 |
Faculty of Physical Education and Sport
publication
Molecular analysis of Czech patients with Methylmalonic aciduria
Publication without faculty affiliation
publication
Prenatal diagnosis in two families with methylmalonic acidemia due to cobalamin B deficiency
+1
Publication without faculty affiliation
publication
Analysis of excretion fraction of uric acid
Publication without faculty affiliation
publication
Nourishment at the treatment of thyrosinemia type I
Publication without faculty affiliation
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