Natural history of Morquio A patient with tracheal obstruction from birth to death

Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan sulfate and chondroitin-6-sulfate. The accumulat...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Metab Rep
Prif Awduron: Doherty, Caitlin, Averill, Lauren W., Theroux, Mary, Mackenzie, William G., Pizarro, Christian, Mason, Robert W., Tomatsu, Shunji
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2017
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5758848/
https://ncbi.nlm.nih.gov/pubmed/29326877
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.11.005
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