Literature DB >> 3930873

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

R B Schutgens, H S Heymans, R J Wanders, H van den Bosch, G Schrakamp.   

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Year:  1985        PMID： 3930873     DOI： 10.1007/bf01811505

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  7 in total

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.

Authors:  D M Danks; P Tippett; C Adams; P Campbell
Journal:  J Pediatr       Date:  1975-03       Impact factor: 4.406

2.  Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome.

Authors:  S Goldfischer; C L Moore; A B Johnson; A J Spiro; M P Valsamis; H K Wisniewski; R H Ritch; W T Norton; I Rapin; L M Gartner
Journal:  Science       Date:  1973-10-05       Impact factor: 47.728

3.  Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids.

Authors:  F R Brown; A J McAdams; J W Cummins; R Konkol; I Singh; A B Moser; H W Moser
Journal:  Johns Hopkins Med J       Date:  1982-12

4.  The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.

Authors:  A E Moser; I Singh; F R Brown; G I Solish; R I Kelley; P J Benke; H W Moser
Journal:  N Engl J Med       Date:  1984-05-03       Impact factor: 91.245

5.  Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.

Authors:  R B Schutgens; G J Romeyn; R J Wanders; H van den Bosch; G Schrakamp; H S Heymans
Journal:  Biochem Biophys Res Commun       Date:  1984-04-16       Impact factor: 3.575

6.  Defects of bile acid synthesis in Zellweger's syndrome.

Authors:  R F Hanson; P Szczepanik-VanLeeuwen; G C Williams; G Grabowski; H L Sharp
Journal:  Science       Date:  1979-03-16       Impact factor: 47.728

7.  The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts.

Authors:  G Schrakamp; R B Schutgens; R J Wanders; H S Heymans; J M Tager; H Van den Bosch
Journal:  Biochim Biophys Acta       Date:  1985-01-09
  7 in total
  1 in total

Review 1.  Peroxisomal disorders: a newly recognised group of genetic diseases.

Authors:  R B Schutgens; H S Heymans; R J Wanders; H van den Bosch; J M Tager
Journal:  Eur J Pediatr       Date:  1986-02       Impact factor: 3.183
  1 in total

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