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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.
Highly Cited
1994
Highly Cited
1994
Phytanic acid must be activated to phytanoyl-CoA prior to its alpha-oxidation in rat liver peroxisomes.
Highly Cited
1986
Highly Cited
1986
Peroxisomal beta-oxidation of palmitoyl-CoA in human liver homogenates and its deficiency in the cerebro-hepato-renal (Zellweger) syndrome.
Highly Cited
1985
Highly Cited
1985
Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: Plasma changes and skin fibroblast phytanic acid oxidase
SummaryCerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease patients can be divided into at… 
Highly Cited
1984
Highly Cited
1984
Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?
The activity of phytanic acid oxidase is low in infantile and adult Refsum's disease, and in the cerebro‐hepato‐renal (Zellweger… 
Highly Cited
1984
Highly Cited
1984
Patterns of Refsum's disease. Phytanic acid oxidase deficiency.
Four children each exhibiting a profound deficiency of phytanic acid oxidase activity in cultured skin fibroblasts but with very… 
Highly Cited
1983
Highly Cited
1983
Acquired immunodeficiency syndrome with Pneumocystis carinii pneumonia and Mycobacterium avium-intracellulare infection in a previously healthy patient with classic hemophilia. Clinical, immunologic…
A previously healthy patient with classic hemophilia who was on a home infusion program with factor VIII concentrates developed… 
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… 
Highly Cited
1966
Highly Cited
1966
Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis.
Highly Cited
1957
Highly Cited
1957
Heredopathia atactica polyneuritiformis.
Highly Cited
1956
Highly Cited
1956
NEUROPATHOLOGICAL CHANGES IN HEREDITARY NEUROPATHIES: MANIFESTATION OF THE SYNDROME HEREDOPATHIA ATACTICA POLYNEURITIFORMIS IN THE PRESENCE OF INTERSTITIAL HYPERTROPHIC POLYNEUROPATHY
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