A 9-Month-Old with Skeletal Abnormalities and a Consanguineous Sibling with Mucopolysaccharidosis IVA: The Role of Urinary Glycosaminoglycan Testing in Disease Diagnosis and Treatment Monitoring

Mucopolysaccharidosis IVA (MPS IVA) is a rare autosomal recessive lysosomal storage disorder resulting from N-acetylgalactosamine-6-sulfatase (GALNS) deficiency that occurs in approximately 1 in 76 000 to 1 in 640 000 live births. Given that the diagnosis of MPS IVA relies heavily on the results of...

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Detalles Bibliográficos
Autores principales: Goldman, Eric, Vu, Angela, Dietz, Kelly, Thomas, Stefani N
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7940721/
https://www.ncbi.nlm.nih.gov/pubmed/33746520
http://dx.doi.org/10.1177/1179547621999409

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7940721/
https://www.ncbi.nlm.nih.gov/pubmed/33746520
http://dx.doi.org/10.1177/1179547621999409

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