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.

October 20, 2021
Case Report

Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid.

Case Reports in Ophthalmological Medicine
Omar ElghawyEugene Y Shildkrot
October 19, 2021
Case Report

Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review.

Child Neurology Open
Akiyo YamamotoHirotomo Saitsu
September 1, 2021

Time-course analysis of metabolomic and microbial responses in anaerobic digesters exposed to ammonia.

Olivier ChapleurKim-Anh Lê Cao
August 28, 2021
Open Access

Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan.

International Journal of Neonatal Screening
Nobuyuki ShimozawaHidenori Ohnishi
July 27, 2021

Cardiac Involvement in Movement Disorders.

Movement Disorders Clinical Practice
Malco RossiMarcelo Merello
July 9, 2021
Open Access

Effect of phytol in forage on phytanic acid content in cow's milk.

Animal Bioscience
Renlong LvYuzo Kurokawa
June 9, 2021
Open Access

[Pronounced band keratopathy in Refsum's syndrome].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
Isabel WeinsteinBerthold Seitz
May 5, 2021

How the brain fights fatty acids' toxicity.

Neurochemistry International
Peter Schönfeld, Georg Reiser
March 6, 2021

In silico analyses of toxicity of the major constituents of essential oils from two Ipomoea L. species.

Toxicon : Official Journal of the International Society on Toxinology
Oseias Souza da Silva JúniorEloisa Helena de Aguiar Andrade
February 26, 2021
Open Access

Identification of key genes in sheep fat tail evolution Based on RNA-seq.

Xinyue WangWujun Liu
February 22, 2021
Open Access

Phytol supplementation alters plasma concentrations of formate, amino acids, and lipid metabolites in sheep.

Animal : an International Journal of Animal Bioscience
L L DingT Sugino
February 16, 2021
Case Report

Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B.

American Journal of Medical Genetics. Part a
Suzena MasihShubha R Phadke
January 29, 2021

Increased expression of acyl-CoA oxidase 2 in the kidney with plasma phytanic acid and altered gut microbiota in spontaneously hypertensive rats.

Hypertension Research : Official Journal of the Japanese Society of Hypertension
Masahiro OkamuraNoboru Fukuda
January 21, 2021
Open Access

Prognostic role of PHYH for overall survival (OS) in clear cell renal cell carcinoma (ccRCC).

European Journal of Medical Research
Qiu ZhengqiAo Ying
December 19, 2020

Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.

Journal of Inherited Metabolic Disease
Wedad FallatahNancy Braverman
December 6, 2020
Open Access

Prognostic value of lipid metabolism-related genes in head and neck squamous cell carcinoma.

Immunity, Inflammation and Disease
Ying XiongZhigang Zhang
November 28, 2020

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

The Journal of Dairy Research
Tomonori NakanishiSatoshi Kawahara

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