Literature DB >> 14295958

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

E H KOLODNY, W K HASS, B LANE, W D DRUCKER.   

Abstract

Entities:  

Keywords:  ATAXIA; CEREBROSPINAL FLUID; DEAFNESS; ELECTROCARDIOGRAPHY; ENDOCRINE DISEASES; ENDOPLASMIC RETICULUM; EYE MANIFESTATIONS; GENETICS, HUMAN; HEART DISEASES; HISTOCYTOCHEMISTRY; LIPIDS; LIVER CYTOLOGY; MICROSCOPY, ELECTRON; PATHOLOGY; PHYSIOLOGY; POLYNEURITIS; REFSUM'S SYNDROME

Mesh：

Substances：

Year:  1965        PMID： 14295958     DOI： 10.1001/archneur.1965.00460300031004

Source DB:  PubMed          Journal:  Arch Neurol        ISSN： 0003-9942


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  9 in total

1.  Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases.

Authors:  J T Van Crugten; B Paton; A Poulos
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  Brain changes in heredopathia atactica polyneuritiformis (Refsum).

Authors:  H Solcher
Journal:  Acta Neuropathol       Date:  1973-03-30       Impact factor: 17.088

3.  [Diagnosis and differential diagnosis of heredopathia atactica polyneuritiformis].

Authors:  S Refsum
Journal:  Dtsch Z Nervenheilkd       Date:  1969

4.  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

5.  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

6.  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

7.  Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver.

Authors:  J M Scotto; M Hadchouel; M Odievre; M H Laudat; J M Saudubray; O Dulac; I Beucler; P Beaune
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

8.  Retinitis pigmentosa, ataxia, and peripheral neuropathy.

Authors:  R R Tuck; J G McLeod
Journal:  J Neurol Neurosurg Psychiatry       Date:  1983-03       Impact factor: 10.154

9.  Patterns of Refsum's disease. Phytanic acid oxidase deficiency.

Authors:  A Poulos; A C Pollard; J D Mitchell; G Wise; G Mortimer
Journal:  Arch Dis Child       Date:  1984-03       Impact factor: 3.791
  9 in total

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