Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study

Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study

Abstract Background Mucopolysaccharidosis (MPS) IVA, also known as Morquio A syndrome, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase. Early recognition, diagnosis, and treatment of this progressive, multisystem disease...

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Bibliographic Details
Main Authors: Can Ficicioglu, Dena R. Matalon, Nicole Luongo, Caitlin Menello, Tracy Kornafel, Andrew J. Degnan
Format: Article
Language:English
Published: BMC 2020-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Mucopolysaccharidosis IVA
Enzyme replacement therapy
Anterior beaking
Platyspondyly
Diagnosis
Treatment
Online Access:https://doi.org/10.1186/s13023-020-01618-y

Internet

https://doi.org/10.1186/s13023-020-01618-y

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