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Refsum Disease

Known as: Refsum's disease, Classic Refsum Disease, Heredoataxia Polyneuritiformis, Hemeralopia 
An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA… 
National Institutes of Health

Related topics

Related topics

22 relations
AnosmiaAutosomal recessive inheritanceCardiomyopathiesIchthyoses

Narrower (2)

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4DRefsum Disease, Adult, 2

Broader (3)

Hereditary Motor and Sensory NeuropathiesIdiopathic NeuropathyLipoidosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Dans les champs de l'observation, le hasard ne favorise que les esprits préparés
Le Gymnase, espace culturel de l'IUFM de Franche-Comte, presente, du 9 novembre au 11 decembre 2011, une exposition collective… 
2008
2008
Identification of impact force in thick plates based on the elastodynamics and time-frequency method (I)
Determination of impact load is important for detecting and analyzing the flaws in thick plate. In industrial plants, thick… 
2004
2004
Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease.
The 3-methyl-branched fatty acid phytanic acid is degraded by the peroxisomal alpha-oxidation route because the 3-methyl group… 
1994
1994
The Tao at Work: On Leading and Following
For many in today's world, strapped with responsibility yet feeling pressured and uncertain, the search for clear direction and… 
Highly Cited
1969
Highly Cited
1969
Refsum's disease: defective oxidation of phytanic acid in tissue cultures derived from homozygotes and heterozygotes.
Abstract A defect in phytanic acid oxidation was demonstrated in cultured fibroblasts derived from skin biopsies of 11 patients… 
1969
1969
Heredopathia Atactica Polyneuritiformis (Refsum's Disease)
The clinical data of two patients with Refsum’s disease are presented. All the cardinal symptoms and signs were present. In… 
1965
1965
REFSUM'S SYNDROME: REPORT OF A CASE INCLUDING ELECTRON MICROSCOPIC STUDIES OF THE LIVER.
REFSUM'S syndrome, a hereditary disorder of the nervous system, was first described under the title of "Heredopathia Atactica… 
Highly Cited
1964
Highly Cited
1964
PSYCHIATRIC STUDIES OF PATIENTS WITH HEMOPHILIA AND RELATED STATES.
Classic hemophilia and Christmas disease are illnesses almost exclusively of males and are manifested primarily by bleeding into… 
1960
1960
[Heredopathia atactica polyneuritiformis; reevaluation].
1958
1958
Diabetes Mellitus in a Child showing Features of Refsum's Syndrome
This paper describes a diabetic child showing most of the features of a condition described by Refsum (Refsum, 1945, 1946a and… 
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