Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene

BACKGROUND: Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol in most organs. The aim of our study was to investigate various organs in a large series of CDS patients. RESULTS: We report for the first time thyroid function impairment in CDS. Am...

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Detalles Bibliográficos
Autores principales: Louhichi, Nacim, Bahloul, Emna, Marrakchi, Slaheddine, Othman, Houda Ben, Triki, Chahnez, Aloulou, Kawthar, Trabelsi, Lobna, Mahfouth, Nadia, Ayadi-Mnif, Zeineb, Keskes, Leila, Fakhfakh, Faiza, Turki, Hamida
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6529994/
https://www.ncbi.nlm.nih.gov/pubmed/31118107
http://dx.doi.org/10.1186/s13023-019-1095-4

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