AB124. Mucolipidosis type II: clinical features and laboratories

BACKGROUND: I-cell disease (Mucolipidosis II) is a rare lysosomal storage disorder caused by the deficiency of N-acetylglucosamine-l-phosphotransferase, an enzyme that transfers phosphate groups onto oligosaccharide units of lysosomal enzyme precursors. Due to the absence of transferase activity, th...

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Bibliographic Details
Published in:Ann Transl Med
Main Authors: Can, Ngoc Thi Bich, Vu, Dung Chi, Bui, Thao Phuong, Nguyen, Khanh Ngoc, Hwu, Wuh-Liang
Format: Artigo
Language:Inglês
Published: AME Publishing Company 2015
Subjects:
Part 4: Oral/poster
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563455/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB124
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