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PMID: 2846959 Published · ppublish English Journal Article

Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

Journal of inherited metabolic disease ·Vol. 11 Suppl 2 ·1988-00-00 ·Pages 183-5

Poll-The BT, Bonnefont JP, Ogier H, Charpentier C, Pelet A, Le Fur JM, Jakobs C, Kok RM, Duran M, Divry P

Abstract

暂无摘要

MeSH Terms
Fatty Acids/metabolism Female Humans Hydroxy Acids/urine Hypoglycemia/complications,genetics,metabolism Lipid Metabolism, Inborn Errors/metabolism Male Oxidation-Reduction Peripheral Nervous System Diseases/complications,metabolism Retinal Diseases/complications,metabolism
Chemicals
Fatty Acids Hydroxy Acids
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Poll-The B T
Hôpital Enfants-Malades, Clinique Génétique Médicale, Paris, France.
Bonnefont J P
Ogier H
Charpentier C
Pelet A
Le Fur J M
Jakobs C
Kok R M
Duran M
Divry P
References (3)
3 references, click to expand
  1. Peroxisomal disorders: a newly recognised group of genetic diseases.
    Eur J Pediatr. 1986 Feb;144(5):430-40 PMID: 3514227
  2. The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.
    Scand J Clin Lab Invest Suppl. 1985;174:1-60 PMID: 3892650
  3. Formation of cholic acid from 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestanoic acid by rat liver peroxisomes.
    J Lipid Res. 1983 Dec;24(12):1560-7 PMID: 6668450
Article Info
Journal
Journal of inherited metabolic disease
Abbr.
J Inherit Metab Dis
ISSN
0141-8955
DOI
10.1007/BF01804230
Published
1988-00-00
Pages
183-5
Language
English
Region
United States
NLM ID
7910918
Subset
IM
External Links
PubMed source DOI: 10.1007/BF01804230 View journal details
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