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glucosylsphingosine
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Jiří Zeman
Person without affiliation with CUNI
11 publications
Publications
publication
Neurotransmitter disorders in childhood and differential diagnosis
2010 |
Publication without faculty affiliation
publication
Girl with congenital disorder of glycosylation - case report
2009 |
Publication without faculty affiliation
publication
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated FIFo ATP synthase deficiency
2008 |
Publication without faculty affiliation
publication
Clinical Manifestations and Results of Laboratory Examinations in Four Patients with Alpha-Mannosidosis
2008 |
Publication without faculty affiliation
publication
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
2008 |
Publication without faculty affiliation
publication
Globoid cell leukodystrophy (Krebbe's disease). A series of Czech patients and a survey of current views of biology and differential
2006 |
Publication without faculty affiliation
publication
Mitochondiral inheritance
2005 |
Publication without faculty affiliation
publication
Newborn screening of inherited metabolic disorders by tandem mass spectrometry
2005 |
Publication without faculty affiliation
publication
Abnormalities in succinzlpurines in fumarse deficiency.
2000 |
Publication without faculty affiliation
publication
The first polymofismus causing an amino acid exchange in patients with X-ALD.
2000 |
Publication without faculty affiliation
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