Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter

BACKGROUND: α/β-hydrolase domain-containing protein 5 (ABHD5) plays an important role in the triacylglycerols (TAG) hydrolysis. Indeed, ABHD5 is the co-activator of adipose triglyceride lipase (ATGL), that catalyses the initial step of TAG hydrolysis. Mutations in ABHD5 gene are associated with the...

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Detalles Bibliográficos
Autores principales: Missaglia, Sara, Valadares, Eugenia Ribeiro, Moro, Laura, Faguntes, Eleonora Druve Tavares, quintão Roque, Raquel, Giardina, Bruno, Tavian, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995635/
https://www.ncbi.nlm.nih.gov/pubmed/24628803
http://dx.doi.org/10.1186/1471-2350-15-32

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