Literature DB >> 2845269

Prenatal diagnosis of cytochrome c oxidase deficiency by biopsy of chorionic villi.

W Ruitenbeek, R Sengers, M Albani, F Trijbels, A Janssen, O van Diggelen, J Bakkeren.   

Abstract

Mesh：

Year:  1988        PMID： 2845269     DOI： 10.1056/NEJM198810203191616

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  4 in total

1.  The use of chorionic villi in prenatal diagnosis of mitochondriopathies.

Authors:  W Ruitenbeek; R C Sengers; J M Trijbels; A J Janssen; J A Bakkeren
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose.

Authors:  R J Wanders; F A Wijburg; J Ruiter; J M Trijbels; W Ruitenbeek; R C Sengers; J A Bakkeren; N Feller
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 3.  Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism.

Authors:  W Ruitenbeek; U Wendel; B C Hamel; J M Trijbels
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 4.  Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi.

Authors:  L Niers; L van den Heuvel; F Trijbels; R Sengers; J Smeitink
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982
  4 in total

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