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

Screening for ocular involvement in deaf children

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

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

BioRxiv : the Preprint Server for Biology
Erin ZampaglioneKinga M. Bujakowska
February 6, 2020
Review
Open Access

Sjogren-Larsson Syndrome: Mechanisms and Management

The Application of Clinical Genetics
Parayil Sankaran Bindu
April 9, 2020

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

Genes
Anna M TracewskaKrystyna H Chrzanowska
April 9, 2019

Impact of US Public Health Service increased risk deceased donor designation on organ utilization

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons
Mathew R P SapianoSridhar V Basavaraju
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
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
April 12, 2019
Open Access

Epidemiological and genetic characterization of pH1N1 and H3N2 influenza viruses circulated in MENA region during 2009-2017

BMC Infectious Diseases
Hebah A Al KhatibHadi M Yassine
September 22, 2019

Using machine learning to estimate survival curves for patients receiving an increased risk for disease transmission heart, liver, or lung versus waiting for a standard organ

Transplant Infectious Disease : an Official Journal of the Transplantation Society
Ethan MarkJoel Sokol
August 31, 2019
Review
Open Access

Molecular Therapies for Inherited Retinal Diseases-Current Standing, Opportunities and Challenges

Genes
Irene Vázquez-DomínguezRob W J Collin

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