Literature DB >> 6800673

Prenatal diagnosis of pyruvate carboxylase deficiency.

C Marsac, C Augereau, G Feldman, B Wolf, T L Hansen, R Berger.   

Abstract

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Year:  1982        PMID： 6800673     DOI： 10.1016/0009-8981(82)90412-0

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  7 in total

Review 1.  The biotin-dependent carboxylase deficiencies.

Authors:  B Wolf; G L Feldman
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025

2.  A case of pyruvate carboxylase deficiency with later prenatal diagnosis of an unaffected sibling.

Authors:  A Tsuchiyama; K Oyanagi; S Hirano; N Tachi; H Sogawa; K Wagatsuma; T Nakao; S Tsugawa; Y Kawamura
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

3.  Prenatal diagnosis of the organic acidurias.

Authors:  L Sweetman
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

4.  Pyruvate carboxylase deficiency.

Authors:  K Bartlett; H K Ghneim; J H Stirk; G Dale; K G Alberti
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

5.  Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts.

Authors:  C Augereau; D Pham Dinh; A Moncion; C Marsac; J M Saudubray; B H Robinson
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

6.  Liver transplantation in two cases of propionic acidaemia.

Authors:  J S Schlenzig; F Poggi-Travert; J Laurent; D Rabier; D Jan; U Wendel; A C Sewell; Y Revillon; P Kamoun; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

7.  Development of simple and effective PCR based assay to detect PCCA mutation (c.425G > A) among Saudi carriers and functional study of the homozygous PCCA mutations.

Authors:  Ali Al-Asmari; Abdul Ali Peer-Zada; Abdulwahed AlDehaimi; Constantin Polychronakos; Aziz A Chentoufi
Journal:  Saudi J Biol Sci       Date:  2022-09-27       Impact factor: 4.052
  7 in total

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