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Literature DB >> 5531900

Refsum's syndrome: report of three cases.

Abstract

The case-reports of three cases of Refsum's syndrome are presented, and the underlying metabolic abnormality discussed. The effect of treatment with a low-phytanic acid diet in one case is described.

Entities: Chemical Disease

Mesh：

Substances：
Dietary Fats

Year: 1970 PMID： 5531900 PMCID： PMC493598 DOI： 10.1136/jnnp.33.6.817

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

22 in total

1. REFSUM'S SYNDROME: REPORT OF A CASE INCLUDING ELECTRON MICROSCOPIC STUDIES OF THE LIVER.

Authors: E H KOLODNY; W K HASS; B LANE; W D DRUCKER
Journal: Arch Neurol Date: 1965-06

2. Heredopathia atactica polyneuritiformis.

Authors: H REESE; J BARETA
Journal: J Neuropathol Exp Neurol Date: 1950-10 Impact factor: 3.685

3. Refsum's syndrome. Heredopathia atactica polyneuritiformis.

Authors: N C Nevin; J N Cumings; F McKeown
Journal: Brain Date: 1967-06 Impact factor: 13.501

4. Phytanic acid in Refsum's syndrome.

Authors: W S Alexander
Journal: J Neurol Neurosurg Psychiatry Date: 1966-10 Impact factor: 10.154

5. Natural history of Refsum's syndrome in a Gloucestershire family.

Authors: A M Campbell; E R Williams
Journal: Br Med J Date: 1967-09-23

6. Heredopathia Atactica Polyneuritiformis (Refsum's Syndrome).

Authors: D B Clark
Journal: Proc R Soc Med Date: 1951-08

7. Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis.

Authors: L Eldjarn; K Try; O Stokke; A W Munthe-Kaas; S Refsum; D Steinberg; J Avigan; C Mize
Journal: Lancet Date: 1966-03-26 Impact factor: 79.321

8. Conversion of U-C14-phytol to phytanic acid and its oxidation in heredopathia atactica polyneuritiformis.

Authors: D Steinberg; J Avigan; C Mize; L Eldjarn; K Try; S Refsum
Journal: Biochem Biophys Res Commun Date: 1965-06-09 Impact factor: 3.575

9. Refsum's disease: characterization of the enzyme defect in cell culture.

Authors: J H Herndon; D Steinberg; B W Uhlendorf; H M Fales
Journal: J Clin Invest Date: 1969-06 Impact factor: 14.808

10. Localization of the oxidative defect in phytanic acid degradation in patients with Refsum's disease.

Authors: C E Mize; J H Herndon; J P Blass; G W Milne; C Follansbee; P Laudat; D Steinberg
Journal: J Clin Invest Date: 1969-06 Impact factor: 14.808

2 in total

1. Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.

Authors: P Nicolaides; R E Appleton; A Fryer
Journal: J Med Genet Date: 1996-05 Impact factor: 6.318

2. Clinicopathological study of Refsum's disease with particular reference to fatal complications.

Authors: I V Allen; M Swallow; N C Nevin; D McCormick
Journal: J Neurol Neurosurg Psychiatry Date: 1978-04 Impact factor: 10.154

2 in total