Late infantile form of multiple sulfatase deficiency

SUMMARY: Multiple sulfatase deficiency (MSD) is a lysosomal storage disorder (LSD) that results in the accumulation of sulfate esters which go on to cause neurological deterioration and mental delay, skin changes, and dysmorphism. The disease can be categorized into three subtypes based on the age o...

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Detalles Bibliográficos
Autores principales: Mohammadian Khonsari, Nami, Hakak-Zargar, Benyamin, Voth, Tessa, Noorian, Shahab
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2020
Materias:
Novel Diagnostic Procedure
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7576665/
https://www.ncbi.nlm.nih.gov/pubmed/33434174
http://dx.doi.org/10.1530/EDM-20-0128

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7576665/
https://www.ncbi.nlm.nih.gov/pubmed/33434174
http://dx.doi.org/10.1530/EDM-20-0128

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