Literature DB >> 7609445

Enzymological versus DNA investigations in mitochondrial (encephalo-) myopathies.

D D de Vries1, W Ruitenbeek, I J de Wijs, J M Trijbels, B A van Oost.   

Abstract

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Year:  1993        PMID： 7609445     DOI： 10.1007/BF00711674

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


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  8 in total

1.  Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome.

Authors:  D D de Vries; C J Buzing; W Ruitenbeek; M P van der Wouw; W Sperl; R C Sengers; J M Trijbels; B A van Oost
Journal:  Neuromuscul Disord       Date:  1992       Impact factor: 4.296

2.  Mitochondrial mutation in fatal infantile cardiomyopathy.

Authors:  M Tanaka; H Ino; K Ohno; K Hattori; W Sato; T Ozawa; T Tanaka; S Itoyama
Journal:  Lancet       Date:  1990-12-08       Impact factor: 79.321

3.  A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

Authors:  Y Goto; I Nonaka; S Horai
Journal:  Nature       Date:  1990-12-13       Impact factor: 49.962

Review 4.  Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach.

Authors:  J M Trijbels; R C Sengers; W Ruitenbeek; J C Fischer; J A Bakkeren; A J Janssen
Journal:  Eur J Pediatr       Date:  1988-11       Impact factor: 3.183

Review 5.  Biogenesis of mitochondria.

Authors:  G Attardi; G Schatz
Journal:  Annu Rev Cell Biol       Date:  1988

6.  Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.

Authors:  J M Shoffner; M T Lott; A M Lezza; P Seibel; S W Ballinger; D C Wallace
Journal:  Cell       Date:  1990-06-15       Impact factor: 41.582

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

Review 8.  Defects of mitochondrial DNA.

Authors:  M Zeviani; C Antozzi
Journal:  Brain Pathol       Date:  1992-04       Impact factor: 6.508
  8 in total
  1 in total

1.  Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain.

Authors:  U Wendel; W Ruitenbeek; H A Bentlage; R C Sengers; J M Trijbels
Journal:  Eur J Pediatr       Date:  1995-11       Impact factor: 3.183
  1 in total

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