Sly Disease: Mucopolysaccharidosis Type VII.

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.

journal_name

Indian Pediatr

journal_title

Indian pediatrics

authors

Nampoothiri S,Kappanayil M,Hiran KR,Sunitha V

subject

Has Abstract

pub_date

2008-10-01 00:00:00

pages

859-61

issue

10

eissn

0019-6061

issn

0974-7559

journal_volume

45

pub_type

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