Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease

Fabry disease is an X-linked genetic disorder characterized by deficient activity of α-galactosidase A (GLA) and accumulation of glycolipids, and various GLA gene mutations lead to a wide range of clinical phenotypes from the classic form to the later-onset one. To investigate the biochemical hetero...

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Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: Tsukimura, Takahiro, Nakano, Sachie, Togawa, Tadayasu, Tanaka, Toshie, Saito, Seiji, Ohno, Kazuki, Shibasaki, Futoshi, Sakuraba, Hitoshi
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2014
Matèries:
Research Paper
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5121323/
https://ncbi.nlm.nih.gov/pubmed/27896103
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.07.005
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