Chargement en cours...

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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Endocrinol Diabetes Metab Case Rep
Auteurs principaux: Mohammadian Khonsari, Nami, Hakak-Zargar, Benyamin, Voth, Tessa, Noorian, Shahab
Format: Artigo
Langue:Inglês
Publié: Bioscientifica Ltd 2020
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7576665/
https://ncbi.nlm.nih.gov/pubmed/33434174
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-20-0128
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!