Literature DB >> 13560885

Refsum's syndrome affecting a brother and two sisters.

E M ASHENHURST, J H MILLAR, T G MILLIKEN.   

Abstract

Entities:  

Keywords:  ATAXIA; POLYNEURITIS; RETINITIS PIGMENTOSA/heredity

Mesh:

Year:  1958        PMID: 13560885      PMCID: PMC2026047          DOI: 10.1136/bmj.2.5093.415

Source DB:  PubMed          Journal:  Br Med J        ISSN: 0007-1447


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  3 in total

1.  The pattern of amino-acid excretion in cystinuria.

Authors:  H HARRIS; U MITTWOCH; E B ROBSON; F L WARREN
Journal:  Ann Hum Genet       Date:  1955-02       Impact factor: 1.670

2.  Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features.

Authors:  D N BARON; C E DENT; H HARRIS; E W HART; J B JEPSON
Journal:  Lancet       Date:  1956-09-01       Impact factor: 79.321

3.  Heredopathia atactica polyneuritiformis.

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

  3 in total
  9 in total

1.  [REFSUM'S SYNDROME.--LIPOID CHEMICAL RESEARCH IN 9 CASES].

Authors:  W KAHLKE
Journal:  Klin Wochenschr       Date:  1964-10-15

2.  Refsum's disease.

Authors: 
Journal:  Br Med J       Date:  1967-03-18

3.  Phytanic acid in Refsum's syndrome.

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

Review 4.  Refsum's disease (heredopathia atactica polyneuritiformis). An inborn error of lipid metabolism with storage of 3,7,11,15 tetramethyl hexadecanoic acid. A review of the clinical findings.

Authors:  R Richterich; H Moser; E Rossi
Journal:  Humangenetik       Date:  1965

5.  Refsum's syndrome: report of three cases.

Authors:  C D Quinlan; E A Martin
Journal:  J Neurol Neurosurg Psychiatry       Date:  1970-12       Impact factor: 10.154

6.  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

7.  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

8.  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

9.  Refsum disease--the effect of diet.

Authors:  J H Millar
Journal:  Ulster Med J       Date:  1985-04
  9 in total

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