Literature DB >> 4161898

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.

R Richterich, H Moser, E Rossi.   

Abstract

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Year:  1965        PMID： 4161898     DOI： 10.1007/bf00273974

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


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  37 in total

1.  [HEREDOPATHIA ATACTICA POLYNEURITIFORMIS. CLINICAL ASPECTS AND DIAGNOSIS OF THE REFSUM SYNDROME].

Authors:  H HARDERS; H DIECKMANN
Journal:  Dtsch Med Wochenschr       Date:  1964-02-07       Impact factor: 0.628

2.  Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block. Report of a case, with findings at autopsy.

Authors:  B V JAGER; H L FRED; R B BUTLER; W H CARNES
Journal:  Am J Med       Date:  1960-11       Impact factor: 4.965

3.  Refsum's disease; three siblings, one autopsy.

Authors:  R EDSTROM; O GRONTOFT; H SANDRING
Journal:  Acta Psychiatr Neurol Scand       Date:  1959

4.  Retinitis pigmentosa, acanthrocytosis, and heredodegenerative neuromuscular disease.

Authors:  A L KORNZWEIG; F A BASSEN
Journal:  AMA Arch Ophthalmol       Date:  1957-08

5.  Diabetes mellitus in a child showing features of Refsum's syndrome.

Authors:  J B HEYCOCK; J WILSON
Journal:  Arch Dis Child       Date:  1958-08       Impact factor: 3.791

6.  Refsum's disease.

Authors:  M B RAVIN; H SCHWARTZ
Journal:  Anesthesiology       Date:  1962 Mar-Apr       Impact factor: 7.892

7.  [Thalidomide embryopathy].

Authors:  W LENZ; K KNAPP
Journal:  Dtsch Med Wochenschr       Date:  1962-06-15       Impact factor: 0.628

8.  Heredopathia atactica polyneuritiformis.

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

9.  [Not Available].

Authors:  A FRANCESCHETTI; D KLEIN
Journal:  Bull Schweiz Akad Med Wiss       Date:  1947-05

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

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

1.  Refsum's disease (heredopathia atactica polyneuritiformis). An inborn error of lipid metabolism with storage of 3,7,11,15 tetramethyl hexadecanoic acid formal genetics.

Authors:  R Richterich; S Rosin; E Rossi
Journal:  Humangenetik       Date:  1965

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

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

3.  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

4.  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

5.  Studies on the metabolic error in Refsum's disease.

Authors:  D Steinberg; C E Mize; J Avigan; H M Fales; L Eldjarn; K Try; O Stokke; S Refsum
Journal:  J Clin Invest       Date:  1967-03       Impact factor: 14.808

6.  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

7.  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
  7 in total

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