Chanarin-Dorfman Syndrome Latest Advances

Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome.

Journal: Molecular genetics and metabolism reports

Published: July 23, 2025

Defective targeting of PNPLA1 to lipid droplets causes ichthyosis in ABHD5-syndromic epidermal differentiation disorder.

Journal: Journal of lipid research

Published: June 05, 2025

A case of Chanarin-Dorfman syndrome

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: April 16, 2025

Liver Transplant Outcome in Chanarin-Dorfman Syndrome: A Rare Lipid Storage Disease.

Journal: Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation

Published: January 15, 2025

Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues.

Journal: Orphanet journal of rare diseases

Published: November 09, 2024

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.

Journal: Acta dermato-venereologica

Published: July 01, 2024

Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma.

Journal: Pediatric dermatology

Published: February 06, 2024

Comprehensive Analysis of the Complete Mitochondrial Genome of Rehmannia chingii: An Autotrophic Species in the Orobanchaceae Family.

Journal: Genes

Published: December 19, 2023

Leukocytes containing lipid inclusions in congenital ichthyosis without classical Chanarin-Dorfman mutations.

Journal: International journal of dermatology

Published: November 29, 2023

The presence of white cell Jordan's anomaly in multiple Acyl-CoA dehydrogenase deficiency: A case report and implications for clinical practice.

Journal: Clinical biochemistry

Published: November 04, 2023

Comorbidity of bathing suit ichthyosis and limb-girdle muscular dystrophy type 2 A in a Tunisian patient revealed by Whole Exome Sequencing.

Journal: Gene

Published: October 31, 2023

Correlation analysis between peripheral blood dendritic cell subsets and PD-1 in patients with peritoneal adenocarcinoma.

Journal: Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas

Published: October 23, 2023