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PMID: 3930873 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome by detection of an impaired plasmalogen biosynthesis.

Journal of inherited metabolic disease ·Vol. 8 Suppl 2 ·1985-00-00 ·Pages 153-4

Schutgens RB, Heymans HS, Wanders RJ, van den Bosch H, Schrakamp G

Abstract

暂无摘要

MeSH Terms
Acyltransferases/deficiency Female Hepatomegaly/congenital,diagnosis Humans Kidney Diseases, Cystic/congenital,diagnosis Liver Diseases/congenital Microbodies/enzymology Plasmalogens/biosynthesis Pregnancy Prenatal Diagnosis Skull/abnormalities Syndrome
Chemicals
Plasmalogens Acyltransferases glycerone-phosphate O-acyltransferase
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Schutgens R B
Heymans H S
Wanders R J
van den Bosch H
Schrakamp G
References (7)
7 references, click to expand
  1. Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism.
    J Pediatr. 1975 Mar;86(3):382-7 PMID: 1113225
  2. Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids.
    Johns Hopkins Med J. 1982 Dec;151(6):344-51 PMID: 7176294
  3. Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.
    Biochem Biophys Res Commun. 1984 Apr 16;120(1):179-84 PMID: 6712687
  4. The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts.
    Biochim Biophys Acta. 1985 Jan 9;833(1):170-4 PMID: 3967038
  5. The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.
    N Engl J Med. 1984 May 3;310(18):1141-6 PMID: 6709009
  6. Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome.
    Science. 1973 Oct 5;182(4107):62-4 PMID: 4730055
  7. Defects of bile acid synthesis in Zellweger's syndrome.
    Science. 1979 Mar 16;203(4385):1107-8 PMID: 424737
Article Info
Journal
Journal of inherited metabolic disease
Abbr.
J Inherit Metab Dis
ISSN
0141-8955
DOI
10.1007/BF01811505
Published
1985-00-00
Pages
153-4
Language
English
Region
United States
NLM ID
7910918
Subset
IM
External Links
PubMed source DOI: 10.1007/BF01811505 View journal details
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