Late infantile form of multiple sulfatase deficiency
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 of onset:...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2020-09-01
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| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2020/1/EDM20-0128.xml |