Literature DB >> 2846961

Cytochrome c oxidase deficiency in three patients with Leigh's disease.

M Di Rocco1, E Veneselli, M O Ciccone, A Taccone, M Stroppiano, F Cottafava.   

Abstract

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Year:  1988        PMID： 2846961     DOI： 10.1007/bf01804232

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


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  5 in total

1.  Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue.

Authors:  J L Willems; L A Monnens; J M Trijbels; J H Veerkamp; A E Meyer; K van Dam; U van Haelst
Journal:  Pediatrics       Date:  1977-12       Impact factor: 7.124

2.  Specificity of the urine inhibitor test for Leigh's disease.

Authors:  J H Pincus; J R Cooper; K Piros; V Turner
Journal:  Neurology       Date:  1974-09       Impact factor: 9.910

3.  Leigh's encephalomyelopathy: an inborn error of gluconeogenesis.

Authors:  F A Hommes; H A Polman; J D Reerink
Journal:  Arch Dis Child       Date:  1968-08       Impact factor: 3.791

4.  Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (Leigh disease).

Authors:  D C DeVivo; M W Haymond; K A Obert; J S Nelson; A S Pagliara
Journal:  Ann Neurol       Date:  1979-12       Impact factor: 10.422

5.  Studies on pyruvate carboxylase, pyruvate decarboxylase and lipoamide dehydrogenase in subacute necrotizing encephalomyelopathy.

Authors:  T L Hansen; E Christensen; N J Brandt
Journal:  Acta Paediatr Scand       Date:  1982-03
  5 in total
  2 in total

1.  Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome.

Authors:  R M Brown; G K Brown
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.

Authors:  C Morin; G Mitchell; J Larochelle; M Lambert; H Ogier; B H Robinson; M De Braekeleer
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025
  2 in total

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