Literature DB >> 1357227

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

M Hrebícek1, J Zeman, B Petrák, V Kozich, J Hyánek, J P Ruiter, R J Wanders, F A Wijburg.   

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Year:  1992        PMID： 1357227     DOI： 10.1007/bf02435966

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


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  3 in total

1.  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

2.  Factors determining the relative contribution of the adenine-nucleotide translocator and the ADP-regenerating system to the control of oxidative phosphorylation in isolated rat-liver mitochondria.

Authors:  R J Wanders; A K Groen; C W Van Roermund; J M Tager
Journal:  Eur J Biochem       Date:  1984-07-16

Review 3.  Mitochondrial encephalomyopathies.

Authors:  A Lombes; E Bonilla; S Dimauro
Journal:  Rev Neurol (Paris)       Date:  1989       Impact factor: 2.607
  3 in total
  1 in total

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

Authors:  R J Wanders; J P Ruiter; F A Wijburg; J Zeman; P Klement; J Houstek
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982
  1 in total

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