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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...
Enregistré dans:
| Publié dans: | Endocrinol Diabetes Metab Case Rep |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Bioscientifica Ltd
2020
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| 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 |
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