Chanarin-Dorfman Syndrome Latest Advances
Find the Latest Research About Chanarin-Dorfman Syndrome
Last Updated: 04/28/2026
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Found 129 publications
Analysis of genetic variant and phenotype of a child with Chanarin-Dorfman syndrome
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: March 11, 2026
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
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
Last Updated: 04/28/2026