Mucosulfatidosis (Q67742)
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Multiple sulfatase deficiency (MSD) or Austin's disease is an extremely rare lysosomal storage disease characterised by a deficiency of all sulfatases whether lysosomal or not. Clinically, the disease combines variable proportions of clinical signs of metachromatic leukodystrophy (arylsulfatase A deficiency), mucopolysaccharidoses (types II, IIIA, IIID and VI are due to sulfatase deficiencies) and X-linked ichthyosis (steroid-sulfatase deficiency).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_848083807 |
||
| English | Mucosulfatidosis |
Multiple sulfatase deficiency (MSD) or Austin's disease is an extremely rare lysosomal storage disease characterised by a deficiency of all sulfatases whether lysosomal or not. Clinically, the disease combines variable proportions of clinical signs of metachromatic leukodystrophy (arylsulfatase A deficiency), mucopolysaccharidoses (types II, IIIA, IIID and VI are due to sulfatase deficiencies) and X-linked ichthyosis (steroid-sulfatase deficiency). |
Statements
CID11:ID_848083807
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dki-india-ID_848083807
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Concluído
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