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Niemann-pick type C
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RNDr. Jitka Rybová Ph.D.
Externí osoba na 1. lékařská fakulta
6 publikací
Publikace
publication
Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency
2022 |
1. lékařská fakulta, Ústřední knihovna
publication
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II
2018 |
1. lékařská fakulta
publication
Specific storage of glycoconjugates with terminal alpha-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B
2018 |
1. lékařská fakulta
publication
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
2016 |
1. lékařská fakulta
publication
Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses
2016 |
1. lékařská fakulta
publication
Fabry disease: renal sphingolipid distribution in the alpha-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging
2015 |
1. lékařská fakulta
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