Associated Papers
Alternative Splicing Regulation in Metabolic Disorders.
Kaminska D
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2025
Turning Points in Cross-Disciplinary Perspective of Primary Hyperparathyroidism and Pancreas Involvements: Hypercalcemia-Induced Pancreatitis, MEN1 Gene-Related Tumors, and Insulin Resistance.
Carsote M et al.
International Journal of Molecular Sciences, 2024
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
34440338 (PubMed )
Supplement: genes-12-01164-s001.zip › genes-1303691-supplementary.pdf
Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene.
Jiang X et al.
International Journal of Dermatology, 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
Cerebral lipid accumulation in Chanarin-Dorfman Syndrome.
Huigen MC et al.
Molecular Genetics and Metabolism, 2015
Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.
Redaelli C et al.
Orphanet Journal of Rare Diseases, 2010
Chanarin-Dorfman Syndrome diagnosed at the stage of liver transplantation: A rare lipid storage disease.
Durmazer E et al.
Journal of Clinical Lipidology, 0
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