Skin Ultrastructural Findings in Type 2 Gaucher Disease: Diagnostic Implications

BACKGROUND: Type 2 Gaucher disease is a rare and progressive subtype of this lysosomal storage disorder, marked by rapid, early-onset neurodegeneration. Distinguishing type 2 from types 1 and 3 Gaucher disease has remained challenging, due to the lack of a clear correlation between phenotype and enz...

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書誌詳細
主要な著者: Chan, Aegean, Holleran, Walter, Ferguson, Tajh, Crumrine, Debra, Goker-Alpan, Ozlem, Schiffmann, Raphael, Tayebi, Nahid, Ginns, Edward I., Elias, Peter, Sidransky, Ellen
フォーマット: Artigo
言語:Inglês
出版事項: 2011
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3224209/
https://ncbi.nlm.nih.gov/pubmed/21982627
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.09.008
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