Mucopolysaccharidosis IVA and glycosaminoglycans

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作者：Shaukat Khan^a ; ¹ ; Carlos J. Almé ; ciga-Dí ; az^b ; ¹ ; Kazuki Sawamoto^a ; William G. Mackenzie^a ; Mary C. Theroux^a ; Christian Pizarro^a ; Robert W. Mason^a ; Tadao Orii^c ; Shunji Tomatsu^a ; ^c ; ^d ; ^{stomatsu@nemours.org} ; ^{stomatsu@gifu-u.ac.jp}
关键词：MPS ; mucopolysaccharidosis ; GAG ; glycosaminoglycans ; C6S ; chondroitin-6-sulfate ; KS ; keratin sulfate ; ECM ; extracellular matrix ; GALNS ; N-acetylgalactosamine 6-sulfate sulfatase ; LC-MS/MS ; liquid chromatography/tandem mass spectrometry ; LSD ; lysosomal storage disorder ; DBS ; dried blood spot ; DMB ; dimethylmethylene blue ; ERT ; enzyme replacement therapy ; 6MWT ; 6 ; min walk test ; 3MSCT ; 3 ; min stair climb test ; ADL ; activity of daily living ; HSCT ; Hematopoietic Stem Cell Therapy ; BMT ; bone m
刊名：Molecular Genetics and Metabolism
出版年：2017
出版时间：January-February 2017
年：2017
卷：120
期：1-2
页码：78-95
全文大小：2512 K
卷排序：120

文摘

Historical aspect of mucopolysaccharidosis IVA Diagnosis of MPS IVA Glycosaminoglycans and its role in MPS IVA Animal model of MPS IVA Therapy management of MPS IVA