Literature DB >> 2122098

Early prenatal diagnosis of propionic acidaemia with simultaneous sampling of chorionic villus and amniotic fluid.

M O Rolland1, P Divry, G Mandon, P Guibaud, M Mathieu, G Sournies, J M Thoulon.   

Abstract

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Year:  1990        PMID： 2122098     DOI： 10.1007/bf01799391

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


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  5 in total

1.  Prenatal diagnosis of propionic acidemia: amniocentesis at the 11th week of pregnancy.

Authors:  B Chadefaux; D Rabier; J P Bonnefont; C Jakobs; Y Dumez; P Kamoun
Journal:  Prenat Diagn       Date:  1989-06       Impact factor: 3.050

2.  Routine gas chromatographic/mass spectrometric analysis of urinary organic acids. Results over a three-year period.

Authors:  P Divry; C Vianey-Liaud; J Cotte
Journal:  Biomed Environ Mass Spectrom       Date:  1987-11

3.  Activity of biotin-dependent and GABA metabolizing enzymes in chorionic villus samples: potential for 1st trimester prenatal diagnosis.

Authors:  F R Sweetman; K M Gibson; L Sweetman; W L Nyhan; H Chin; W Swartz; O W Jones
Journal:  Prenat Diagn       Date:  1986 May-Jun       Impact factor: 3.050

4.  Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells.

Authors:  H F Willard; L M Ambani; A C Hart; M J Mahoney; L E Rosenberg
Journal:  Hum Genet       Date:  1976-12-15       Impact factor: 4.132

5.  First trimester diagnosis of methylmalonic aciduria.

Authors:  B Fowler; L Giles; I B Sardharwalla; P Donnai; J K Clayton
Journal:  Prenat Diagn       Date:  1988-03       Impact factor: 3.050
  5 in total

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