Cornea۲٬۰۲۵گزارش موردنمایه شده در PubMed
Ana Faria Pereira, Sofia Pedrosa, Raúl Moreira, Elisa Leão-Teles, José Manuel Lopes, Augusto Magalhães
چکیده
Maroteaux-Lamy syndrome (MPSVI) is a rare lysosomal storage disorder caused by an Arylsulfatase B ( ARSB ) deficiency, leading to dermatan sulfate and chondroitin-4-sulfate accumulation. It manifests various systemic clinical features. Enzyme Replacement Therapy with Galsulfase (Naglazyme) manages…
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DOI: 10.1097/ico.0000000000003855