We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports.
- Authors
MODAK, DOLANCHAMPA; ROY, SASMIT; NATH, UTTAM; GUHA, S. K.
- Abstract
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 diagnosed in India. We are reporting two interesting cases of type 1 non-neuropathic and type 3 juvenile subacute neuropathic variant of adult Gaucher disease in two of three siblings in a family.
- Subjects
GAUCHER'S disease; LYSOSOMAL storage diseases; RESPIRATORY distress syndrome; HEMOGLOBINS; FAMILIAL diseases
- Publication
Journal of Clinical & Diagnostic Research, 2015, Vol 9, Issue 2, p1
- ISSN
0973-709X
- Publication type
Case Study
- DOI
10.7860/JCDR/2015/8493.5507