Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Olga Krivoruk"'
Autor:
Orly Dorot, Or Cabasso, Johannes M. F. G. Aerts, Gali Maor, Metsada Pasmanik-Chor, Mina Mirzaian, Sumit Paul, Maria J. Ferraz, Mia Horowitz, Olga Krivoruk
Publikováno v:
Journal of Clinical Medicine, Vol 8, Iss 9, p 1420 (2019)
Journal of Clinical Medicine
Journal of Clinical Medicine, 8(9), 1420. MDPI
Journal of Clinical Medicine; Volume 8; Issue 9; Pages: 1420
Journal of Clinical Medicine
Journal of Clinical Medicine, 8(9), 1420. MDPI
Journal of Clinical Medicine; Volume 8; Issue 9; Pages: 1420
Gaucher disease (GD) results from mutations in the GBA1 gene, which encodes lysosomal glucocerebrosidase (GCase). The large number of mutations known to date in the gene lead to a heterogeneous disorder, which is divided into a non-neuronopathic, typ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92d8e58d52197c282cb28b6f354aee83
https://www.mdpi.com/2077-0383/8/9/1420
https://www.mdpi.com/2077-0383/8/9/1420
Autor:
Gali Maor, Or Cabasso, Mia Horowitz, Daniel L. Segal, Joe Rodriguez, Hermann Steller, Olga Krivoruk
Publikováno v:
Human Molecular Genetics. :ddw129
Gaucher disease (GD) results from mutations in the acid β-glucocerebrosidase (GCase) encoding gene, GBA, which leads to accumulation of glucosylceramides. GD patients and carriers of GD mutations have a significantly higher propensity to develop Par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff2657989ba1cdc45a579f58b13b7aa7
https://doi.org/10.1093/hmg/ddw129
https://doi.org/10.1093/hmg/ddw129