Literature DB >> 2172646

Heterogeneous tissue expression of enzyme defects in mitochondrial myopathies.

W Sperl1, W Ruitenbeek, J M Trijbels, G C Korenke, R C Sengers.   

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Year:  1990        PMID： 2172646     DOI： 10.1007/BF01799395

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


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  8 in total

1.  Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells.

Authors:  H R Scholte; H F Busch; I E Luyt-Houwen; M H Vaandrager-Verduin; H Przyrembel; W F Arts
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

Review 2.  Complexity and tissue specificity of the mitochondrial respiratory chain.

Authors:  R A Capaldi; D G Halphen; Y Z Zhang; W Yanamura
Journal:  J Bioenerg Biomembr       Date:  1988-06       Impact factor: 2.945

3.  A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts.

Authors:  D S Kerr; S A Berry; M M Lusk; L Ho; M S Patel
Journal:  Pediatr Res       Date:  1988-07       Impact factor: 3.756

Review 4.  Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.

Authors:  W Sperl; W Ruitenbeek; C M Kerkhof; R C Sengers; J M Trijbels; J P Guggenbichler; A J Janssen; J A Bakkeren
Journal:  Eur J Pediatr       Date:  1990-04       Impact factor: 3.183

5.  Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia.

Authors:  B H Robinson; N McKay; P Goodyer; G Lancaster
Journal:  Am J Hum Genet       Date:  1985-09       Impact factor: 11.025

6.  Progressive infantile poliodystrophy (Alpers' disease) with a defect in citric acid cycle activity in liver and fibroblasts.

Authors:  M J Prick; F J Gabreëls; W O Renier; J M Trijbels; J L Willems; A J Janssen; J L Slooff; J A Geelen; J P de Jager
Journal:  Neuropediatrics       Date:  1982-05       Impact factor: 1.947

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

8.  "Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis.

Authors:  G K Brown; E A Haan; D M Kirby; R D Scholem; J E Wraith; J G Rogers; D M Danks
Journal:  Eur J Pediatr       Date:  1988-01       Impact factor: 3.183
  8 in total
  5 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.  NADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with Leigh syndrome: implications for the diagnosis of inborn errors of the respiratory chain.

Authors:  F A Wijburg; 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
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

3.  The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients.

Authors:  J Loeffen; R Smeets; J Smeitink; R Triepels; R Sengers; F Trijbels; L van den Heuvel
Journal:  J Inherit Metab Dis       Date:  1999-02       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
  5 in total

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