Literature DB >> 1770777

NADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with Leigh syndrome: implications for the diagnosis of inborn errors of the respiratory chain.

F A Wijburg1, R J Wanders, E M van Lie Peters, G D Vos, H G Loggers, P A Bolhuis, N H Herzberg, W Ruitenbeek, A van Wilsem, R ten Houten.   

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Year:  1991        PMID： 1770777     DOI： 10.1007/bf01811686

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


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  7 in total

1.  Heterogeneous tissue expression of enzyme defects in mitochondrial myopathies.

Authors:  W Sperl; W Ruitenbeek; J M Trijbels; G C Korenke; R C Sengers
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Differential expression of nuclear genes for cytochrome c oxidase during myogenesis.

Authors:  M I Lomax; E Coucouvanis; E A Schon; K F Barald
Journal:  Muscle Nerve       Date:  1990-04       Impact factor: 3.217

3.  Defects in muscle fiber growth in fatal infantile cytochrome c oxidase deficiency.

Authors:  I Nonaka; Y Koga; E Okino; A Kikuchi; K Fujisawa; S Miyabayashi
Journal:  Brain Dev       Date:  1988       Impact factor: 1.961

4.  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

5.  Free-energy carriers in human cultured muscle cells.

Authors:  P A Bolhuis; H J de Zwart; N J Ponne; J M de Jong
Journal:  Muscle Nerve       Date:  1985-01       Impact factor: 3.217

6.  Intravenous pyruvate loading test in Leigh syndrome.

Authors:  P M Van Erven; F J Gabreëls; R A Wevers; W H Doesburg; W Ruitenbeek; W O Renier; K J Lamers
Journal:  J Neurol Sci       Date:  1987-02       Impact factor: 3.181

7.  A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

Authors:  J C Fischer; W Ruitenbeek; F J Gabreëls; A J Janssen; W O Renier; R C Sengers; A M Stadhouders; H J ter Laak; J M Trijbels; J H Veerkamp
Journal:  Eur J Pediatr       Date:  1986-02       Impact factor: 3.183
  7 in total
  1 in total

Review 1.  Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies.

Authors:  J M Trijbels; H R Scholte; W Ruitenbeek; R C Sengers; A J Janssen; H F Busch
Journal:  Eur J Pediatr       Date:  1993-03       Impact factor: 3.183
  1 in total

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