Literature DB >> 10896290

Antenatal expression of multiple acyl-CoA dehydrogenase deficiency.

C Vianey-Saban1, R Bouvier, P Cochat, A Buenerd, P Divry, R Dumoulin, M P Cordier.   

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Year:  2000        PMID： 10896290     DOI： 10.1023/a:1005623028638

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


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  4 in total

1.  Clinical and genetic heterogeneity in Meckel syndrome.

Authors:  P Paavola; R Salonen; A Baumer; A Schinzel; P A Boyd; S Gould; H Meusburger; R Tenconi; A Barnicoat; R Winter; L Peltonen
Journal:  Hum Genet       Date:  1997-11       Impact factor: 4.132

2.  Electron-transfer flavoprotein-ubiquinone oxidoreductase from pig liver: purification and molecular, redox, and catalytic properties.

Authors:  J D Beckmann; F E Frerman
Journal:  Biochemistry       Date:  1985-07-16       Impact factor: 3.162

Review 3.  Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia.

Authors:  C Vianey-Saban; B Mousson; C Bertrand; D Stamm; R Dumoulin; M T Zabot; P Divry; D Floret; M Mathieu
Journal:  Eur J Pediatr       Date:  1993-04       Impact factor: 3.183

4.  The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.

Authors:  B A Amendt; W J Rhead
Journal:  J Clin Invest       Date:  1986-07       Impact factor: 14.808
  4 in total
  3 in total

Review 1.  Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

Authors:  Christine Vianey-Saban; Cécile Acquaviva; David Cheillan; Sophie Collardeau-Frachon; Laurent Guibaud; Cécile Pagan; Magali Pettazzoni; Monique Piraud; Antonin Lamazière; Roseline Froissart
Journal:  J Inherit Metab Dis       Date:  2016-07-08       Impact factor: 4.982

Review 2.  Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.

Authors:  Sophie Collardeau-Frachon; Marie-Pierre Cordier; Massimiliano Rossi; Laurent Guibaud; Christine Vianey-Saban
Journal:  J Inherit Metab Dis       Date:  2016-04-22       Impact factor: 4.982

Review 3.  Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.

Authors:  Laurent Guibaud; Sophie Collardeau-Frachon; Audrey Lacalm; Mona Massoud; Massimiliano Rossi; Marie Pierre Cordier; Christine Vianey-Saban
Journal:  J Inherit Metab Dis       Date:  2016-11-16       Impact factor: 4.982
  3 in total

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