Diagnosing Mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity

BACKGROUND: Mucopolysaccharidosis type IVA, also known as Morquio A or MPS IV A, is an autosomal recessive disease caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The loss of GALNS activity leads to the impaired breakdown of glycosaminoglycans (GAG...

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Detalles Bibliográficos
Autores principales: Shams, Sedigheh, Barazandeh Tehrani, Maliheh, Civallero, Gabriel, Minookherad, Koosha, Giugliani, Roberto, Setoodeh, Aria, Haghi Ashtiani, Mohammad Taghi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591505/
https://www.ncbi.nlm.nih.gov/pubmed/28904929
http://dx.doi.org/10.1186/s40200-017-0319-1

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