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

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 by enzy...

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Detalles Bibliográficos
Autores principales:	Ficicioglu, Can, Matalon, Dena R., Luongo, Nicole, Menello, Caitlin, Kornafel, Tracy, Degnan, Andrew J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7706253/ https://www.ncbi.nlm.nih.gov/pubmed/33256811 http://dx.doi.org/10.1186/s13023-020-01618-y

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