Chanarin–Dorfman syndrome with rare renal involvement-Reference-Cited by-同舟云学术

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Chanarin–Dorfman syndrome with rare renal involvement

Published:2017-01-29 Issue:2 Volume:176 Page:545-548
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Verma S.B.¹,Mittal A.²,Wollina U.³,Eckstein G.H.⁴,Gohel K.⁵,Giehl K.⁴

Affiliation:

1. Department of Dermatology Nirvana Skin Clinic Vadodara Gujarat India

2. Department of Dermatology RNT Medical College Udaipur Rajasthan India

3. Department of Dermatology and Allergology Academic Teaching Hospital Dresden Germany

4. Institute of Human Genetics Helmholtz Zentrum München Germany

5. Department of Nephrology Muljibhai Patel Urology Hospital Nadiad Gujarat India

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.15156

Reference10 articles.

1. Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome

2. Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene

3. Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation

4. Chanarin-Dorfman Syndrome: Clinical Features of a Rare Lipid Metabolism Disorder

5. Barrier Dysfunction and Pathogenesis of Neutral Lipid Storage Disease with Ichthyosis (Chanarin–Dorfman Syndrome)

Cited by 12 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. The Intersection of Genetic Factors, Aberrant Nutrient Metabolism and Oxidative Stress in the Progression of Cardiometabolic Disease;Antioxidants;2024-01-10

2. Dorfman–Chanarin Syndrome with Renal Involvement: A Rare Case Report and Literature Review;Indian Journal of Nephrology;2023

3. Dorfman-Chanarin Syndrome;Neurocutaneous Disorders;2022

4. Metabolic and Nutritional Disorders Relevant in Dermatology;Atlas of Dermatology, Dermatopathology and Venereology;2021-10-07

5. 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

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