Literature DB >> 8739948

Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin-permeabilized cells.

R J Wanders1, J P Ruiter, F A Wijburg, J Zeman, P Klement, J Houstek.   

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Year:  1996        PMID： 8739948     DOI： 10.1007/bf01799412

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


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  8 in total

1.  Unusual clinical presentation in two boys with cytochrome c oxidase deficiency.

Authors:  M Hrebícek; J Zeman; B Petrák; V Kozich; J Hyánek; J P Ruiter; R J Wanders; F A Wijburg
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.  Diseases of the mitochondrial DNA.

Authors:  D C Wallace
Journal:  Annu Rev Biochem       Date:  1992       Impact factor: 23.643

4.  Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease.

Authors:  B H Robinson; L De Meirleir; M Glerum; G Sherwood; L Becker
Journal:  J Pediatr       Date:  1987-02       Impact factor: 4.406

5.  Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts.

Authors:  R J Wanders; S Denis; J P Ruiter; R B Schutgens; C W van Roermund; B S Jacobs
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

6.  The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia.

Authors:  B H Robinson; D M Glerum; W Chow; R Petrova-Benedict; R Lightowlers; R Capaldi
Journal:  Pediatr Res       Date:  1990-11       Impact factor: 3.756

7.  Studies on the formation of lactate and pyruvate from glucose in cultured skin fibroblasts: implications for detection of respiratory chain defects.

Authors:  F A Wijburg; N Feller; H R Scholte; H Przyrembel; R J Wanders
Journal:  Biochem Int       Date:  1989-09

8.  Studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts: application to mitochondrial encephalomyopathies.

Authors:  R J Wanders; J P Ruiter; F A Wijburg
Journal:  Biochim Biophys Acta       Date:  1993-06-19
  8 in total
  3 in total

1.  Effects of organophosphorus compounds on ATP production and mitochondrial integrity in cultured cells.

Authors:  C Massicotte; K Knight; C J Van der Schyf; B S Jortner; M Ehrich
Journal:  Neurotox Res       Date:  2005       Impact factor: 3.911

2.  Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206.

Authors:  Pavel Jesina; Markéta Tesarová; Daniela Fornůsková; Alena Vojtísková; Petr Pecina; Vilma Kaplanová; Hana Hansíková; Jirí Zeman; Josef Houstek
Journal:  Biochem J       Date:  2004-11-01       Impact factor: 3.857

Review 3.  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
  3 in total

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