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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...
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| Опубликовано в: : | Endocrinol Diabetes Metab Case Rep |
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| Главные авторы: | , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Bioscientifica Ltd
2020
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| Предметы: | |
| Online-ссылка: | 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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