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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6529994/
https://ncbi.nlm.nih.gov/pubmed/31118107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1095-4
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