Associated Papers
Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder.
Mangukiya NP et al.
Cureus, 2023
Evaluation of Patients with Ichthyosis Followed in a Neonatal Intensive Care Unit: A Single Center Experience.
Deveci MF et al.
Journal of Clinical Practice and Research, 2023
Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome.
Kopp J et al.
Genes, 2021
Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome.
Tavian D et al.
European Journal of Translational Myology, 2021
Chanarin-Dorfman Syndrome: A comprehensive review.
Cakmak E et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2021
CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.
Yu L et al.
Advances in Experimental Medicine and Biology, 2020
Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations.
Youssefian L et al.
Journal of Hepatology, 2019
Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function.
Missaglia S et al.
Cells, 2019
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents.
Durdu M et al.
Bmc Medical Genetics, 2018
Cerebral lipid accumulation in Chanarin-Dorfman Syndrome.
Huigen MC et al.
Molecular Genetics and Metabolism, 2015
Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation.
Cakmak E et al.
Clinics and Research in Hepatology and Gastroenterology, 2012
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5.
Schweiger M et al.
American Journal of Physiology. Endocrinology and Metabolism, 2009
Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.
Yamaguchi T et al.
Biochimica Et Biophysica Acta, 2009
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.
Lefèvre C et al.
American Journal of Human Genetics, 2001
Could "Islets of Sparing" Be a Clue for Neutral Lipid Storage Disease with Ichthyosis in Patients with Congenital Ichthyosiform Erythroderma?
Demir FT et al.
Indian Journal of Dermatology, 0