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...

Descripción completa

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

Internet

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

Ejemplares similares