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bn:00899791n
Noun Concept
Categories: Lipid storage disorders, Rare diseases, Genodermatoses, Autosomal recessive disorders
EN
mucosulfatidosis  multiple sulfatase deficiency  Austin's disease  Austin disease  Juvenile sulfatidosis, Austin type
EN
Multiple sulfatase deficiency, also known as Austin disease, or mucosulfatidosis, is a very rare autosomal recessive: 561  lysosomal storage disease caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, which activates sulfatases. Wikipedia
Definitions
Relations
Sources
EN
Multiple sulfatase deficiency, also known as Austin disease, or mucosulfatidosis, is a very rare autosomal recessive: 561  lysosomal storage disease caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, which activates sulfatases. Wikipedia
A very rare form of metachromatic leukodystrophy Wikipedia Disambiguation
Lysosomal storage disease Wikidata
IS A
rare disease
genetic disease
Sulfatidosis
sphingolipidosis
neurometabolic disease
+1 relations
GENETIC ASSOCIATION
SUMF1
arylsulfatase A
arylsulfatase B
HEALTH SPECIALTY
endocrinology
Wikipedia
EN
multiple sulfatase deficiency
Wikidata
EN
mucosulfatidosis
Wikipedia Redirections
EN
Austin's disease, Austin disease, Mucosulfatidosis, Multiple sulfatase deficiency disease
Wikidata Alias
EN
Austin disease, Juvenile sulfatidosis, Austin type, MSD, Mucosulfatidosis, MULTIPLE SULFATASE DEFICIENCY, MULTIPLE SULFATASE DEFICIENCY; MSD, multiple sulfatase deficiency disease, Sulfatidosis, Juvenile, Austin Type

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