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MUCOPOLYSACCHARIDOSE VII [1 record]
Record 1 - internal organization data 2019-11-21
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Genetics
Record 1, Main entry term, English
- Sly syndrome
1, record 1, English, Sly%20syndrome
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
- mucopolysaccharidosis type VII 2, record 1, English, mucopolysaccharidosis%20type%20VII
correct
- MPS VII 2, record 1, English, MPS%20VII
correct
- MPS VII 2, record 1, English, MPS%20VII
- mucopolysaccharidosis VII 3, record 1, English, mucopolysaccharidosis%20VII
correct
- MPS VII 3, record 1, English, MPS%20VII
correct
- MPS VII 3, record 1, English, MPS%20VII
- Sly's syndrome 4, record 1, English, Sly%27s%20syndrome
correct
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
Sly syndrome, also called mucopolysaccharidosis type VII (MPS VII), is a very rare lysosomal storage disease that has an autosomal-recessive inheritance pattern. ... Sly syndrome is caused by deficiency of the enzyme beta-glucuronidase, and it was the first MPS [mucopolysaccharidosis] for which the altered gene was localized to an autosome chromosome, the long arm of chromosome 7 ... 5, record 1, English, - Sly%20syndrome
Record 1, Key term(s)
- MPSVII
- mucopolysaccharidosis type 7
- mucopolysaccharidosis 7
- MPS 7
- MPS7
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 1, Main entry term, French
- maladie de Sly
1, record 1, French, maladie%20de%20Sly
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- mucopolysaccharidose de type VII 1, record 1, French, mucopolysaccharidose%20de%20type%20VII
correct, feminine noun
- MPS VII 1, record 1, French, MPS%20VII
correct, feminine noun
- MPS VII 1, record 1, French, MPS%20VII
- syndrome de Sly 2, record 1, French, syndrome%20de%20Sly
correct, masculine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
La mucopolysaccharidose de type VII(MPS VII) ou [la] maladie de Sly est une maladie de surcharge lysosomale, très rare, du groupe des mucopolysaccharidoses. [...] La maladie est due au déficit en bêta-D-glucuronidase, responsable de l'accumulation dans les lysosomes de divers glycosaminoglycanes [...] La transmission de la MPS VII se fait sur le mode récessif autosomique. 3, record 1, French, - maladie%20de%20Sly
Record 1, Key term(s)
- mucopolysaccharidose VII
- MPSVII
- mucopolysaccharidose de type 7
- MPS 7
- MPS7
Record 1, Spanish
Record 1, Textual support, Spanish
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