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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Detalles Bibliográficos
Publicado en:Iran Biomed J
Autores principales: Nakhaei, Shahrbanoo, Heidary, Hamed, Rahimian, Aliasghar, Vafadar, Mahdi, Roohani, Farzaneh, Bahoosh, G.R., Amirkashani, Davoud
Formato: Artigo
Lenguaje:Inglês
Publicado: Pasteur Institute 2018
Materias:
Case Report
Acceso en línea: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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