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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 diagnosed...
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| Publicado no: | J Clin Diagn Res |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
JCDR Research and Publications (P) Limited
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4378763/ https://ncbi.nlm.nih.gov/pubmed/25859481 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7860/JCDR/2015/8493.5507 |
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