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Krebbe's
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Jiří Zeman
Person without affiliation with CUNI
58 publications
Publications
publication
Globoid cell leukodystrophy (Krebbe's disease). A series of Czech patients and a survey of current views of biology and differential
2006 |
Faculty of Physical Education and Sport
publication
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms
2007 |
Faculty of Physical Education and Sport
publication
A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family
2007 |
Faculty of Physical Education and Sport
publication
X- linked dominant chondrodysplasie punctata (CDPX2): Multisystemic impact of the defect in cholesterol biosynthesis
2007 |
Faculty of Physical Education and Sport
publication
X-linked Adrenoleukodystrophy in Twenty One Czech Patients
2006 |
Faculty of Physical Education and Sport
publication
From the history of foster care
2006 |
Faculty of Physical Education and Sport
publication
Fumaric aciduria: Mild phenotype in a 8-year-old girl with novel mutations
2006 |
Faculty of Physical Education and Sport
publication
A novel insertion of a rearranged L1 element in exon 44 og the dystrophin gene: Further evidence for possible bias in retroposon integration
2006 |
Faculty of Physical Education and Sport
publication
Post-exercise acute rhabdomyolysis - benign sign or symptom of serious muscular disease?
2006 |
Faculty of Physical Education and Sport
publication
Methylmalonic Acidemia : clinical, biochemical a molecular biological studie
2006 |
Faculty of Physical Education and Sport
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