Llwytho...

A Novel Frameshift Mutation of Galactosidase-alpha in Fabry Disease Restricted to Dermatologic Manifestations

A 28-year-old Asian male was referred for dermatologic evaluation of diffuse bluish-red maculopapules in the lower trunk and genital regions. There was no family history, and with the exception of dispersed skin lesions and hypohidrosis, no other complaints or symptoms were present. Histological eva...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Kim, Dae Hun, Kim, Soo Yeon, Im, Myung, Lee, Young, Seo, Young Joon, Lee, Jeung Hoon
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Korean Dermatological Association; The Korean Society for Investigative Dermatology 2013
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3582937/
https://ncbi.nlm.nih.gov/pubmed/23467435
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5021/ad.2013.25.1.95
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