AB073. Classic infantile-onset Pompe disease: phenotypes and outcomes of 5 Vietnamese patients receiving enzyme replacement therapy

BACKGROUND: Pompe disease (PD) or glycogen storage disease type II is a lysosomal storage disorder, caused by mutations of GAA gene which results in deficiency of acid alpha-glucosidase (GAA) enzyme that involves in metabolism of glycogen in the lysosomes. Its incidence is 1/14,000–1/100,000. PD is...

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Detaylı Bibliyografya
Yayımlandı:Ann Transl Med
Asıl Yazarlar: Nguyen, Khanh Ngoc, Do, Mai Thi Thanh, Can, Ngoc Thi Bich, Hwu, Wuh-Liang, Vu, Dung Chi
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: AME Publishing Company 2017
Konular:
Newborn Screening, Inborn Errors of Metabolism
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641736/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s073
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