Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter

CGI-58/ABHD5-Derived Signaling Lipids Regulate Systemic Inflammation and Insulin Action

(2012) C. C. Lord et al.   DIABETES

Novel nonsense mutation of ABHD5 in Dorfman–Chanarin syndrome with unusual findings: A challenge for genotype–phenotype correlation

(2012) Shagun Aggarwal et al.   European Journal of Medical Genetics

Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function

(2012) Daniela Tavian et al.   HUMAN MOLECULAR GENETICS

Distinct roles for α-β hydrolase domain 5 (ABHD5/CGI-58) and adipose triglyceride lipase (ATGL/PNPLA2) in lipid metabolism and signaling

(2012) Caleb C. Lord et al.   Adipocyte

An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family

(2011) L. Samuelov et al.   BRITISH JOURNAL OF DERMATOLOGY

Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5

(2010) M Cakir et al.   ACTA PAEDIATRICA

Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene

(2010) Serap Emre et al.   European Journal of Medical Genetics

Dorfman-Chanarin syndrome: A rare neutral lipid storage disease

(2010) Souvik Mitra et al.   Indian Journal of Pathology and Microbiology

Clinical and genetic characterization of Chanarin-Dorfman Syndrome patients: first report of large deletions in the ABHD5 gene

(2010) Chiara Redaelli et al.   Orphanet Journal of Rare Diseases

Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5

(2009) Martina Schweiger et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman–Chanarin syndrome

(2009) Mayumi Ujihara et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Clinical and genetic characterization of Chanarin–Dorfman syndrome

(2008) Claudio Bruno et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABDH5 mutation

(2008) Anna Ronchetti et al.   JOURNAL OF HEPATOLOGY