Refsum Disease

Refsum disease is an autosomal recessive disorder of lipid metabolism characterized by adult-onset retinitis pigmentosa, anosmia, sensory neuropathy, ataxia, and an accumulation of phytanic acid in plasma and tissues. Here is the latest research on this peroxisomal disorder.

February 21, 2020

Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome

Journal of the Peripheral Nervous System : JPNS
Andreas ThimmMark Stettner
August 2, 2019

Rosai-Dorfman Disease of the Pancreas Shows Significant Histologic Overlap With IgG4-related Disease

The American Journal of Surgical Pathology
Jessica TrachtAlyssa M Krasinskas
October 1, 2019
Open Access

Screening for ocular involvement in deaf children

The Pan African Medical Journal
Belghmaidi SarahMoutaouakil Abdeljalil
August 21, 2019
Open Access

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

BioRxiv : the Preprint Server for Biology
Erin ZampaglioneKinga M. Bujakowska
November 28, 2020

Dietary phytanic acid-induced changes in tissue fatty acid profiles in mice

The Journal of Dairy Research
Tomonori NakanishiSatoshi Kawahara
February 6, 2020
Open Access

Sjogren-Larsson Syndrome: Mechanisms and Management

The Application of Clinical Genetics
Parayil Sankaran Bindu
October 27, 2020
Case Report
Open Access

Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review

Molecular Genetics and Metabolism Reports
Whiwon LeeMichal Inbar-Feigenberg
April 9, 2020
Open Access

Slc25a17 Gene Trapped Mice: PMP34 Plays a Role in the Peroxisomal Degradation of Phytanic and Pristanic Acid

Frontiers in Cell and Developmental Biology
Paul P Van VeldhovenElke Van Ael
November 27, 2019
Open Access

Genetic Spectrum of ABCA4 -Associated Retinal Degeneration in Poland

Anna M TracewskaKrystyna H Chrzanowska
December 7, 2019
Case Report

Adult onset seizures in learning disability

The Journal of the Royal College of Physicians of Edinburgh
Rehiana Ali, Andrew J Larner
August 11, 2020
Open Access

Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'

Journal of Neuromuscular Diseases
Matthew J JenningsRita Horvath
July 22, 2020

Longitudinal study of Pex1-G844D NMRI mouse model: A robust pre-clinical model for mild Zellweger spectrum disorder

Biochimica Et Biophysica Acta. Molecular Basis of Disease
Tanguy DemaretEtienne M Sokal
December 19, 2020

Clinical, biochemical and molecular characterization of mild (nonclassic) Rhizomelic Chondrodysplasia Punctata

Journal of Inherited Metabolic Disease
Wedad FallatahNancy Braverman
August 22, 2020

Phytanic acid-derived peroxisomal lipid metabolism in porcine oocytes

Eui Hyun KimByeong Chun Lee

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