Literature DB >> 77310

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

I V Allen, M Swallow, N C Nevin, D McCormick.   

Abstract

The clinical and pathological findings in two brothers with biochemically diagnosed Refsum's disease are given. The pathology, in general, was that already described in this condition. An unusual complication in one case was the development of renal failure. Death was caused in the other by heart failure.

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Year:  1978        PMID： 77310      PMCID： PMC493025          DOI： 10.1136/jnnp.41.4.323

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


  13 in total

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

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

2.  A simple method for the isolation and purification of total lipides from animal tissues.

Authors:  J FOLCH; M LEES; G H SLOANE STANLEY
Journal:  J Biol Chem       Date:  1957-05       Impact factor: 5.157

3.  Refsum's syndrome affecting a brother and two sisters.

Authors:  E M ASHENHURST; J H MILLAR; T G MILLIKEN
Journal:  Br Med J       Date:  1958-08-16

4.  [On the neuropathology of Refsum-Thiébaut disease. (Memorandum on the observation of Richterich, Kahlke, van Mechelen and Rossi, 1963)].

Authors:  L van Bogaert; P van Mechelen; J J Martin; G C Guazzi
Journal:  Rev Neurol (Paris)       Date:  1967-03       Impact factor: 2.607

5.  Use of thin-layer chromatography for the preliminary diagnosis of Refsum's disease (Heredopathia atactica polyneuritiformis).

Authors:  K A Karlsson; A Norrby; B Samuelsson
Journal:  Biochim Biophys Acta       Date:  1967-08-08

6.  Refsum's syndrome. Heredopathia atactica polyneuritiformis.

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

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.  Lipid composition of the nervous system in Refsum's disease.

Authors:  M C MacBrinn; J S O'Brien
Journal:  J Lipid Res       Date:  1968-09       Impact factor: 5.922

9.  [ON THE PRESENCE OF 3,7,11,15-TETRAMETHYLHEXADECANOIC ACID (PHYTANIC ACID) IN THE CHOLESTEROL ESTERS AND OTHER LIPOID FRACTIONS OF THE ORGANS IN A CASE OF A DISEASE OF UNKNOWN ORIGIN (POSSIBLY HEREDOPATHIA ATACTICA POLYNEURITIFORMIS, REFSUM'S SYNDROME)].

Authors:  E KLENK; W KAHIKE
Journal:  Hoppe Seylers Z Physiol Chem       Date:  1963

10.  Neuropathological changes in hereditary neuropathies: manifestation of the syndrome heredopathia atactica polyneuritiformis in the presence of interstitial hypertrophic polyneuropathy.

Authors:  J CAMMERMEYER
Journal:  J Neuropathol Exp Neurol       Date:  1956-07       Impact factor: 3.685
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  3 in total

1.  Long-term plasma exchange in a case of Refsum's disease.

Authors:  D Leppert; U Schanz; J Burger; J Gmür; N Blau; W Waespe
Journal:  Eur Arch Psychiatry Clin Neurosci       Date:  1991       Impact factor: 5.270

2.  Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS.

Authors:  Carlos R Ferreira; Molly H Silber; Taeun Chang; Jonathan G Murnick; Brian Kirmse
Journal:  JIMD Rep       Date:  2015-11-05

3.  Refsum disease--the effect of diet.

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

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