Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA

BACKGROUND: Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase deficiency, which catalyzes a step in the catabolism of glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate. This disease has a variable age of onset and rate of...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: Lin, Hsiang-Yu, Chuang, Chih-Kuang, Chen, Ming-Ren, Chiu, Pao Chin, Ke, Yu-Yuan, Niu, Dau-Ming, Tsai, Fuu-Jen, Hwu, Wuh-Liang, Lin, Ju-Li, Lin, Shuan-Pei
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2014
Teme:
Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3925123/
https://ncbi.nlm.nih.gov/pubmed/24513086
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-21
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki