Sly Disease: Mucopolysaccharidosis Type VII.
Indian Pediatr
;
2008 Oct; 45(10): 859-61
Article
in English
| IMSEAR
| ID: sea-8999
ABSTRACT
A 6 month-old infant presenting with severe mitral regurgitation was found to have hepatosplenomegaly, corneal clouding, and Alder-Reilly granules in the leucocytes. Extremely low levels of beta glucuronidase confirmed the diagnosis of Sly disease (Mucopolysaccharidosis VII). This is the first case of MPS VII reported from India.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Female
/
Humans
/
Monocytes
/
Mucopolysaccharidosis VII
/
Infant
/
Mitral Valve Insufficiency
Language:
English
Journal:
Indian Pediatr
Year:
2008
Type:
Article
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