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Refsum Disease

Refsum Disease diagram by Jayaram et al, Wikimedia
Jayaram et al, Wikimedia

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.

Top 20 most recent papers
BMJ Open

Levels of Lipoprotein (a) in patients with coronary artery disease with and without inflammatory rheumatic disease: a cross-sectional study

BMJ OpenMay 13, 2019
Sverre HolmIvana Hollan
1
5
American Journal of Ophthalmology Case Reports

Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy

American Journal of Ophthalmology Case ReportsJune 14, 2019
Lynn K StanwyckLucia Sobrin
1
1
Antimicrobial Agents and Chemotherapy

Therapeutic Efficacy of LN-1-255 in Combination with Imipenem in Severe Infection Caused by Carbapenem-Resistant Acinetobacter baumannii

Antimicrobial Agents and ChemotherapyAugust 7, 2019
Juan Carlos Vázquez-UchaAlejandro Beceiro
12
1
4
American Heart Journal

Role of diabetes and insulin use in the risk of stroke and acute myocardial infarction in patients with atrial fibrillation: A Medicare analysis

American Heart JournalJune 19, 2019
Amgad MentiasMary Vaughan Sarrazin
6
14
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons

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 SurgeonsApril 9, 2019
Mathew R P SapianoSridhar V Basavaraju
1
9
Metallomics : Integrated Biometal Science

Mutant L-chain ferritins that cause neuroferritinopathy alter ferritin functionality and iron permeability

Metallomics : Integrated Biometal ScienceSeptember 13, 2019
Justin R McNallyFadi Bou-Abdallah
bioRxiv

Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease

bioRxivSeptember 19, 2019
Agnieszka B. WegrzynBarbara M. Bakker
14
7
Transplantation

DEVELOPMENT AND PRELIMINARY EVALUATION OF IRD-1-2-3: AN ANIMATED VIDEO TO INFORM TRANSPLANT CANDIDATES ABOUT INCREASED RISK DONOR KIDNEYS

TransplantationMay 21, 2019
Liise K KaylerThomas H Feeley
Genes

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

GenesAugust 31, 2019
Irene Vázquez-DomínguezRob W J Collin
18
14
Genes

Genetic Spectrum of ABCA4 -Associated Retinal Degeneration in Poland

GenesNovember 27, 2019
Anna M TracewskaKrystyna H Chrzanowska
Experimental Eye Research

Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations

Experimental Eye ResearchAugust 9, 2019
Víctor Abad-MoralesEsther Pomares
1
1
Supportive Care in Cancer : Official Journal of the Multinational Association of Supportive Care in Cancer

A preliminary study of the effect of naldemedine tosylate on opioid-induced nausea and vomiting

Supportive Care in Cancer : Official Journal of the Multinational Association of Supportive Care in CancerJune 12, 2019
Junya SatoMichihiro Shino
JIMD Reports

Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother

JIMD ReportsJune 27, 2019
Patricia DubotThierry Levade
1
The Journal of Nutritional Biochemistry

Phytanic acid activates PPARα to promote beige adipogenic differentiation of preadipocytes

The Journal of Nutritional BiochemistryApril 6, 2019
Hanning WangMin Du
Experimental and Therapeutic Medicine

Early short-term ivabradine treatment in new-onset acute systolic heart failure and sinus tachycardia patients with inflammatory rheumatic disease

Experimental and Therapeutic MedicineJuly 2, 2019
Wei WuZhujun Shen
European Addiction Research

Decreased Occupational Functioning and Increased Physical Health Complaints in Treatment Seekers with Internet-Related Disorders: Compared to Patients with Gambling Disorder

European Addiction ResearchJuly 16, 2019
Kai W MüllerKlaus Wölfling
2
8
bioRxiv

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

bioRxivAugust 21, 2019
Erin ZampaglioneKinga M. Bujakowska
11
2
Malaria Journal

Impact of combining indoor residual spraying and long-lasting insecticidal nets on Anopheles arabiensis in Ethiopia: results from a cluster randomized controlled trial

Malaria JournalMay 28, 2019
Oljira KeneaHans J Overgaard
8
20
European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ECP)

Phytol and its metabolites phytanic and pristanic acids for risk of cancer: current evidence and future directions

European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ECP)August 23, 2019
Gerd BobeYumie Takata
Scientific Reports

Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients

Scientific ReportsApril 6, 2019
Tsz Kin NgHaoyu Chen
1
6

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