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elongin
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Person
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Evženie Pospíšilová
Person without affiliation with CUNI
14 publications
Publications
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
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
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
Mucopolysaccharidosis type II (Hunter disease): Biochemical postnatal and prenatal diagnosis
Publication without faculty affiliation
publication
Nourishment at the treatment of thyrosinemia type I
Publication without faculty affiliation
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