Infantile Refsum Disease Latest Advances
Find the Latest Research About Infantile Refsum Disease
Last Updated: 02/24/2026
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Found 234 publications
Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease.
Journal: Molecular syndromology
Published: January 25, 2024
PEX6 Mutation in a Child with Infantile Refsum Disease-A Case Report and Literature Review.
Journal: Children (Basel, Switzerland)
Published: February 08, 2023
Acute Late-Onset Cirrhosis in Zellweger Spectrum Disorder.
Journal: Case reports in gastroenterology
Published: November 03, 2022
Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates.
Journal: Brain & development
Published: December 26, 2021
Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid.
Journal: Case reports in ophthalmological medicine
Published: August 13, 2021
Allogeneic Hematopoietic Stem Cell Transplantation for PEX1-Related Zellweger Spectrum Disorder: A Case Report and Literature Review.
Journal: Frontiers in pediatrics
Published: February 25, 2021
Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review.
Journal: Molecular genetics and metabolism reports
Published: July 06, 2020
Use of electron microscopy when screening liver biopsies from neonates and infants: experience from a single tertiary children's hospital (1991-2017).
Journal: Ultrastructural pathology
Published: January 05, 2020
Adult onset seizures in learning disability.
Journal: The journal of the Royal College of Physicians of Edinburgh
Published: December 07, 2019
Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease).
Journal: Ultrastructural pathology
Published: February 28, 2018
Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up.
Journal: Pediatric transplantation
Published: December 07, 2017
Recent advances in liver transplantation for metabolic disease.
Journal: Journal of inherited metabolic disease
Published: December 22, 2016
Last Updated: 02/24/2026