Literature DB >> 12555945

Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non-identical twins.

I A Aligianis1, P A Farndon, R G F Gray, S K Heath, M Kilby, K M Gibson, S Akaboshi.   

Abstract

Prenatal diagnosis was performed by both DNA and enzymatic analysis on non-identical twins conceived by in vitro fertilization and at risk of succinate semialdehyde dehydrogenase deficiency. One fetus was predicted to be affected and one unaffected and selective fetal reduction was performed.

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Year:  2002        PMID： 12555945     DOI： 10.1023/a:1021215605013

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


  2 in total

1.  Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.

Authors:  B M Hogema; S Akaboshi; M Taylor; G S Salomons; C Jakobs; R B Schutgens; B Wilcken; S Worthington; G Maropoulos; M Grompe; K M Gibson
Journal:  Mol Genet Metab       Date:  2001-03       Impact factor: 4.797

2.  The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

Authors:  K M Gibson; E Christensen; C Jakobs; B Fowler; M A Clarke; G Hammersen; K Raab; J Kobori; A Moosa; B Vollmer; E Rossier; A K Iafolla; D Matern; O F Brouwer; J Finkelstein; F Aksu; H P Weber; J A Bakkeren; F J Gabreels; D Bluestone; T F Barron; P Beauvais; D Rabier; C Santos; W Lehnert
Journal:  Pediatrics       Date:  1997-04       Impact factor: 7.124
  2 in total

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