Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease

Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A), leading to the progressive accumulation of glycosphingolipids. Classical hemizygous males usually present symptoms, including pain and paresthesia in the extremities, angiokeratoma, hypo- o...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Metab Rep
Prif Awduron: Okada, Jun, Hossain, Mohammad Arif, Wu, Chen, Miyajima, Takashi, Yanagisawa, Hiroko, Akiyama, Keiko, Eto, Yoshikatsu
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2017
Pynciau:
Research Paper
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5758919/
https://ncbi.nlm.nih.gov/pubmed/29326878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.12.004
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