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PMID: 4161898 Published · ppublish English Journal Article Review

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.

Humangenetik ·Vol. 1 ·No. 4 ·1965-00-00 ·Pages 322-32

Richterich R, Moser H, Rossi E

Abstract

暂无摘要

MeSH Terms
Adolescent Adult Child Female Humans Male Middle Aged Refsum Disease/diagnosis
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Richterich R
Moser H
Rossi E
References (37)
37 references, click to expand
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  26. REFSUM'S DISEASE (HEREDOPATHIA ATACTICA POLYNEURITIFORMIS): AN INBORN ERROR OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL HEXADECANOIC ACID. I. REPORT OF A CASE.
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  32. REFSUM'S DISEASE (HERECOPATHIA ATACTICA POLYNEURITIFORMIS): AN INBORN ERROR OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL HEXADECANOIC ACID. II. ISOLATION AND IDENTIFICATION OF THE STORAGE PRODUCT.
    Am J Med. 1965 Aug;39:237-41 PMID: 14320690
  33. Neuropathological changes in hereditary neuropathies: manifestation of the syndrome heredopathia atactica polyneuritiformis in the presence of interstitial hypertrophic polyneuropathy.
    J Neuropathol Exp Neurol. 1956 Jul;15(3):340-61 PMID: 13346397
  34. Congenital absence of beta-lipoproteins.
    Pediatrics. 1963 Feb;31:277-89 PMID: 13928363
  35. Refsum's syndrome; an unusual hereditary neuropathy.
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  36. On having no beta-lipoprotein. A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea.
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  37. Refsum's syndrome; heredopathia atactica polyneuritiformis; a report of three cases, including a study of the cardiac pathology.
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Article Info
Journal
Humangenetik
Abbr.
Humangenetik
ISSN
0018-7348
DOI
10.1007/BF00273974
Published
1965-00-00
Pages
322-32
Language
English
Region
Germany
NLM ID
7607154
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00273974
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