Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene
Sign Up to like & getrecommendations! Published in 2019 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-019-1095-4
Abstract: BackgroundChanarin-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.ResultsWe report… read more here.
Keywords: age; founder mutation; series; dorfman syndrome ... See more keywords
Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.847321
Abstract: The Chanarin–Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease, whch is associated with a decrease in the lipolysis activity in multiple tissue cells. The clinical phenotype involves multiple organs and systems, including… read more here.
Keywords: novel homozygous; phenotype; case; gene ... See more keywords
Erratum: Chanarin-Dorfman syndrome: Clinical report and novel mutation in ABHD5 gene
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Postgraduate Medicine"
DOI: 10.4103/0022-3859.169758
Abstract: [This corrects the article DOI: 10.4103/0022-3859.138826]. read more here.
Keywords: clinical report; chanarin dorfman; erratum chanarin; dorfman syndrome ... See more keywords