Two New Mutations of the ABHD5 Gene in a New Adult Case of Chanarin Dorfman Syndrome: An Uncommon Lipid Storage Disease-Reference-Cited by-同舟云学术

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Two New Mutations of the ABHD5 Gene in a New Adult Case of Chanarin Dorfman Syndrome: An Uncommon Lipid Storage Disease

Published:2005-06-01 Issue:6 Volume:141 Page:
ISSN:0003-987X
Container-title:Archives of Dermatology
language:en
Short-container-title:Arch Dermatol

Author:

Schleinitz Nicolas,Fischer Judith,Sanchez Angélique,Veit Véronique,Harle Jean-Robert,Pelissier Jean-François

Publisher

American Medical Association (AMA)

Subject

Dermatology,General Medicine

Cited by 27 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. ABHD5—A Regulator of Lipid Metabolism Essential for Diverse Cellular Functions;Metabolites;2022-10-24

2. Structural and functional insights into ABHD5, a ligand-regulated lipase co-activator;Scientific Reports;2022-02-16

3. Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome;Genes;2021-07-29

4. Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*);GE - Portuguese Journal of Gastroenterology;2021-07-07

5. Chanarin‐Dorfman Syndrome: A comprehensive review;Liver International;2021-03-18

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