Literature DB >> 2512442

Mitochondrial myopathies: multiple enzyme defects in the respiratory chain.

W Ruitenbeek1, J M Trijbels, J C Fischer, R C Sengers, A J Janssen, C M Kerkhof.   

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Year:  1989        PMID： 2512442     DOI： 10.1007/bf03335420

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


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  7 in total

1.  Foamy myocardial transformation in a child with a disturbed respiratory chain.

Authors:  H Böhles; H Singer; W Ruitenbeek; J M Trijbels; R C Sengers; U P Ketelsen; E Wagner-Thiessen; H Wick
Journal:  Eur J Pediatr       Date:  1987-11       Impact factor: 3.183

Review 2.  Mitochondrial myopathies involving the respiratory chain: a biochemical analysis.

Authors:  S Takamiya; W Yanamura; R A Capaldi; N G Kennaway; R Bart; R C Sengers; J M Trijbels; W Ruitenbeek
Journal:  Ann N Y Acad Sci       Date:  1986       Impact factor: 5.691

3.  Familial NADH: Q1 oxidoreductase (complex I) deficiency: variable expression and possible treatment.

Authors:  F A Wijburg; P G Barth; W Ruitenbeek; R J Wanders; G D Vos; S L Ploos van Amstel; R B Schutgens
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

4.  Homologous plant and bacterial proteins chaperone oligomeric protein assembly.

Authors:  S M Hemmingsen; C Woolford; S M van der Vies; K Tilly; D T Dennis; C P Georgopoulos; R W Hendrix; R J Ellis
Journal:  Nature       Date:  1988-05-26       Impact factor: 49.962

5.  Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency.

Authors:  R C Sengers; J M Trijbels; J A Bakkeren; W Ruitenbeek; J C Fischer; A J Janssen; A M Stadhouders; H J ter Laak
Journal:  Eur J Pediatr       Date:  1984-01       Impact factor: 3.183

6.  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.  Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies.

Authors:  I J Holt; A E Harding; J A Morgan-Hughes
Journal:  Nature       Date:  1988-02-25       Impact factor: 49.962
  7 in total
  7 in total

1.  Absence of cytochrome c oxidase activity in a boy with dysfunction of renal tubules, brain and muscle.

Authors:  A M Das; S Schweitzer-Krantz; D J Byrd; J Brodehl
Journal:  Eur J Pediatr       Date:  1994-04       Impact factor: 3.183

2.  Mitochondrial creatine kinase activity in patients with disturbed energy generation in muscle mitochondria.

Authors:  J Smeitink; W Ruitenbeek; R Sengers; R Wevers; T van Lith; F Trijbels
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

3.  A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60.

Authors:  P Briones; M A Vilaseca; A Ribes; A Vernet; M Lluch; V Cusi; A Huckriede; E Agsteribbe
Journal:  J Inherit Metab Dis       Date:  1997-08       Impact factor: 4.982

4.  Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies.

Authors:  W Sperl; W Ruitenbeek; R C Sengers; J M Trijbels; H Bentlage; J E Wraith; C Heilmann; S Stöckler; C Binder; G C Korenke
Journal:  Eur J Pediatr       Date:  1992-03       Impact factor: 3.183

5.  Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies.

Authors:  J Müller-Höcker; H Ibel; I Paetzke; T Deufel; W Endres; B Kadenbach; J M Gokel; G Hübner
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1991

Review 6.  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

7.  Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications.

Authors:  J F Samson; P G Barth; J I de Vries; F H Menko; W Ruitenbeek; B A van Oost; C Jakobs
Journal:  Eur J Pediatr       Date:  1994-07       Impact factor: 3.183
  7 in total

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