Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

(2017) Elena Maria Pennisi et al.   Orphanet Journal of Rare Diseases

Chanarin Dorfman syndrome: a case report with novel nonsense mutation

(2016) Neerja Gupta et al.   GENE

Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome

(2016) Takuya Takeichi et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Expanding Roles for Lipid Droplets

(2015) Michael A. Welte   CURRENT BIOLOGY

Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation

(2015) Banu Guzel Nur et al.   European Journal of Medical Genetics

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

(2014) Sara Missaglia et al.   BMC Medical Genetics

A Role of Lipid Metabolism during Cumulus-Oocyte Complex Maturation: Impact of Lipid Modulators to Improve Embryo Production

(2014) E. G. Prates et al.   MEDIATORS OF INFLAMMATION

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