Mucopolysaccharidosis: What Pediatric Rheumatologists and Orthopedics Need to Know

Mucopolysaccharidosis (MPS) is a group of disorders caused by the reduced or absent activity of enzymes involved in the glycosaminoglycans (GAGs) degradation; the consequence is the progressive accumulation of the substrate (dermatan, heparan, keratan or chondroitin sulfate) in the lysosomes of cell...

書誌詳細
出版年:	Diagnostics
主要な著者:	Stefania Costi, Roberto Felice Caporali, Achille Marino
フォーマット:	論文
言語:	英語
出版事項:	MDPI AG 2022-12-01
主題:	mucopolysaccharidosis lysosomal storage diseases early diagnosis musculoskeletal inflammation
オンライン･アクセス:	https://www.mdpi.com/2075-4418/13/1/75

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