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bn:01907381n
Noun Concept
Categories: Glycoprotein metabolism disorders, Rare diseases, Skin conditions resulting from errors in metabolism
EN
sialidosis  Sialidosis type 1  Alpha-neuraminidase deficiency  Cherry-red spot-myoclonus syndrome  Lipomucopolysaccharidosis
EN
Mucolipidosis type I is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase. Wikipedia
Definitions
Relations
Sources
EN
Mucolipidosis type I is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase. Wikipedia
Lysosomal storage disease Wikidata
A rare form of mucolipidosis caused by a deficiency of the enzyme sialidase. Wiktionary
IS A
rare disease
glycoproteinosis
HEALTH SPECIALTY
endocrinology
Wikipedia
EN
sialidosis
Wikidata
EN
Sialidosis type 1
Wiktionary
EN
sialidosis
Wikipedia Redirections
EN
Alpha-neuraminidase deficiency, Mucolipidosis I, Mucolipidosis type 1, Neuraminidase deficiency, Sialidosis type 1 and 3
Wikidata Alias
EN
Cherry-red spot-myoclonus syndrome, Lipomucopolysaccharidosis, ML I, Normomorphic sialidosis, type 1 Mucolipidosis

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