Maroteaux-Lamy syndrome.
Indian J Pediatr
;
2004 Oct; 71(10): 933-5
Article
Dans Anglais
| IMSEAR
| ID: sea-81234
ABSTRACT
Mucopolysaccharidoses are a type of lysosomal storage disorders characterized by defect in the degradation of Mucopolysaccharides due to deficiency of specific lysosomal enzymes leading to their accumulation in various tissues. MPS -VI (Maroteaux-Lamy Syndrome) is an autosomal recessive syndrome due to deficiency of enzyme Aryl- Sulfatase -B, and is characterized by characteristic facies, normal intelligence, Dysostosis multiplex, organomegaly, joint stiffness, corneal clouding and striking inclusions in peripheral blood leucocytes. We present an 8-year-old male child with MPS-VI syndrome, confirmed by enzyme assay.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Arylsulfatases
/
Malformations multiples
/
Humains
/
Mâle
/
Enfant
/
Mucopolysaccharidose de type VI
/
Nanisme
/
Leucocytes
langue:
Anglais
Texte intégral:
Indian J Pediatr
Année:
2004
Type:
Article
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