Literature DB >> 8739952

Benign mitochondrial encephalomyopathy in a patient with complex I deficiency.

J M Trijbels1, W Ruitenbeek, R C Sengers, A J Janssen, B A van Oost.   

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Year:  1996        PMID： 8739952     DOI： 10.1007/bf01799416

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


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  7 in total

1.  Benign reversible muscle cytochrome c oxidase deficiency: a second case.

Authors:  M Zeviani; P Peterson; S Servidei; E Bonilla; S DiMauro
Journal:  Neurology       Date:  1987-01       Impact factor: 9.910

Review 2.  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

3.  Succinate-cytochrome c reductase: assessment of its value in the investigation of defects of the respiratory chain.

Authors:  R W Taylor; M A Birch-Machin; K Bartlett; D M Turnbull
Journal:  Biochim Biophys Acta       Date:  1993-06-19

4.  Reversible mitochondrial myopathy with cytochrome c oxidase deficiency.

Authors:  M K Salo; J Rapola; H Somer; H Pihko; M Koivikko; H J Tritschler; S DiMauro
Journal:  Arch Dis Child       Date:  1992-08       Impact factor: 3.791

5.  Benign mitochondrial myopathy with decreased succinate cytochrome C reductase activity.

Authors:  J Arpa; Y Campos; M Gutiérrez-Molina; A Cruz-Martínez; J Arenas; A B Caminero; F Palomo; C Morales; P Barreiro
Journal:  Acta Neurol Scand       Date:  1994-10       Impact factor: 3.209

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.  Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency.

Authors:  S DiMauro; J F Nicholson; A P Hays; A B Eastwood; A Papadimitriou; R Koenigsberger; D C DeVivo
Journal:  Ann Neurol       Date:  1983-08       Impact factor: 10.422
  7 in total
  2 in total

1.  Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.

Authors:  L van den Heuvel; W Ruitenbeek; R Smeets; Z Gelman-Kohan; O Elpeleg; J Loeffen; F Trijbels; E Mariman; D de Bruijn; J Smeitink
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

2.  The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology.

Authors:  R Triepels; J Smeitink; J Loeffen; R Smeets; C Buskens; F Trijbels; L van den Heuvel
Journal:  J Inherit Metab Dis       Date:  1999-04       Impact factor: 4.982
  2 in total

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