Results 11 to 20 of about 4,864,231 (177)
The Senses Disease: a Refsum adult disease case report and a revision of literature
Senses and Sciences, 2014 Refsum Disease is a rare autosomal recessive error of lipid metabolism; onset of symptoms in "classic Refsum disease" or "adult Refsum disease" ranges from age seven months to after age 50 years.
Filippo Camerota, Claudia Celletti
doaj +2 more sources
Pediatric Neurology Briefs, 1988 Two patients with infantile Refsum (phytanic acid storage) disease were treated at 9 mos and 5½ years of age with a low phytanic acid diet and the effects studied over a 2-yr period or longer in the Depts of Chemical Pathology, Neurology and ...
J Gordon Millichap
doaj +2 more sources
Genetic testing for Refsum disease
The EuroBiotech Journal, 2017 We reviewed the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Refsum disease. The disease has autosomal recessive inheritance, unknown prevalence, and is caused by variations in PEX7 and ...
Abeshi Andi +5 more
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Multiple Teeth Impaction in an Adult Patient Affected by Infantile Refsum Disease: A Case Report [PDF]
OralIntroduction: Infantile Refsum disease (IRD) is considered one of the milder phenotypes within the Zellweger Spectrum Disorders (ZSDs), a group of peroxisomal biogenesis disorders characterized by a generalized impairment of peroxisomal function ...
Edoardo Staderini +6 more
doaj +2 more sources
Conventional and advanced MR imaging in infantile Refsum disease [PDF]
The Turkish Journal of Pediatrics, 2015 We report magnetic resonance (MR) imaging findings including diffusion-weighted imaging and proton MR spectroscopy findings in a patient with infantile Refsum disease.
Mustafa Kılıç +5 more
doaj +4 more sources
Phytanic Acid Intake and Lifestyle Modifications on Quality of Life in Individuals with Adult Refsum Disease: A Retrospective Survey Analysis. [PDF]
Nutrients, 2023 Adult Refsum disease (ARD) is a rare peroxisomal biogenesis disorder inherited in an autosomal recessive fashion and is often characterized by retinitis pigmentosa, cerebellar ataxia, and polyneuropathy.
Li JJ, Kim JJ, Nausheen F.
europepmc +2 more sources
, 2023 This is the open repository for the project "AMBIENT: Bodily Entrainment to Audiovisual Rhythms" led by Professor Alexander Refsum ...
Alexander Refsum Jensenius
core +8 more sources
Infantile refsum disease: case report. [PDF]
AJNR Am J Neuroradiol, 2003 Infantile Refsum disease is a rare inborn error of phytanic acid metabolism. It is inherited in an autosomal recessive manner and frequently causes signs and symptoms in the neonate period.
Choksi V +4 more
europepmc +2 more sources
Retinal dystrophies: A look beyond the eyes
American Journal of Ophthalmology Case Reports, 2022 Purpose: To illustrate the importance of systemic evaluation in retinal dystrophies through examples of Alstrom syndrome, Bardet Biedl syndrome, and Refsum disease.
Vincent Duong Tang +5 more
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FITM2-Related Siddiqi Syndrome in Two Iranian Siblings. [PDF]
Clin Case RepABSTRACT We report the first two Iranian siblings with Siddiqi syndrome, carrying a novel likely pathogenic FITM2 variant. Both presented with hallmark features, including early‐onset sensorineural hearing loss, severe generalized dystonia, growth failure, and ichthyosis of the lower limbs, expanding the geographic and genetic spectrum of this rare ...
Ahmadi R +3 more
europepmc +2 more sources