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A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive metabolic disorder caused by mutations in gene encoding the domain-5 of α/β-hydrolase enzyme (ABHD5). It is known as a natural lipid storage disorder arising from impaired lipid metabolism often characterized by hepatomegaly, myopathy, at...
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| Publié dans: | Iran Biomed J |
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| Auteurs principaux: | , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Pasteur Institute
2018
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6305814/ https://ncbi.nlm.nih.gov/pubmed/29475365 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.29252/.22.6.415 |
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