AB127. Enzyme replacement therapy in patient with mucopolysaccharidosis type II: a case report

BACKGROUND AND OBJECTIVE: Mucopolysaccharidosis (MPS) type II (Hunter syndrome) is an X-linked lysosomal storage disorder due to the deficit of iduronate 2-sulfatase, an enzyme catalysing the degradation of the glycosaminoglycans (GAG) dermatan- and heparan-sulfate. Treatment of the disease is mainl...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Ann Transl Med
Egile Nagusiak: Can, Ngoc Thi Bich, Vu, Dung Chi, Le, Hang Thi Thuy, Nguyen, Khanh Ngoc, Bui, Huong Thi
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: AME Publishing Company 2015
Gaiak:
Part 4: Oral/poster
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563387/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB127
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak