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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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JCDR Research and Publications Private Limited
2015-02-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/5507/8493_CE(Ra)_F(Sh)_PF1(SNAK)_PFA(AK)_PF2(AGAK).pdf |