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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...

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Detalles Bibliográficos
Autores principales:	Doherty, Caitlin, Averill, Lauren W., Theroux, Mary, Mackenzie, William G., Pizarro, Christian, Mason, Robert W., Tomatsu, Shunji
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758848/ https://www.ncbi.nlm.nih.gov/pubmed/29326877 http://dx.doi.org/10.1016/j.ymgmr.2017.11.005

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