Literature DB >> 4188238

Refsum's disease: defective oxidation of phytanic acid in tissue cultures derived from homozygotes and heterozygotes.

J H Herndon, D Steinberg, B W Uhlendorf.   

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Year:  1969        PMID: 4188238     DOI: 10.1056/NEJM196911062811903

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  6 in total

1.  Peroxisomes in infantile phytanic acid storage disease: a cytochemical study of skin fibroblasts.

Authors:  M E Beard; A B Moser; V Sapirstein; E Holtzman
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction.

Authors:  B T Poll-The; J M Saudubray; H Ogier; R B Schutgens; R J Wanders; G Schrakamp; H van den Bosch; J M Trijbels; A Poulos; H W Moser
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

3.  A case of Refsum disease with atypical clinical picture in family members.

Authors:  R Marano; P Soliveri; B Garavaglia; A Antonelli; F Girotti
Journal:  Ital J Neurol Sci       Date:  1989-08

4.  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

5.  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

6.  Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia.

Authors:  Neven Maksemous; Heidi G Sutherland; Robert A Smith; Larisa M Haupt; Lyn R Griffiths
Journal:  Biomedicines       Date:  2020-05-25
  6 in total

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