Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports

Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports

Gaucher disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. It is common in Ashkenazi Jews but rare in India. Around five hundred cases are identified and diagnose...

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Bibliographic Details
Main Authors: DOLANCHAMPA MODAK, SASMIT ROY, UTTAM NATH, S.K.GUHA
Format: Article
Language:English
Published: JCDR Research and Publications Private Limited 2015-02-01
Series:Journal of Clinical and Diagnostic Research
Subjects:
gaucher disease
glucocerebrosidase
lysosomal storage disorder
sibling
Online Access:https://jcdr.net/articles/PDF/5507/8493_CE(Ra)_F(Sh)_PF1(SNAK)_PFA(AK)_PF2(AGAK).pdf

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