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

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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Bibliographic Details
Main Authors: Caitlin Doherty, Lauren W. Averill, Mary Theroux, William G. Mackenzie, Christian Pizarro, Robert W. Mason, Shunji Tomatsu
Format: Article
Language:English
Published: Elsevier 2018-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Natural history
Morquio A syndrome
Tracheal obstruction
Autopsy
Keratan sulfate
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426917301398

Internet

http://www.sciencedirect.com/science/article/pii/S2214426917301398

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