Literature DB >> 8739953

Progressive generalized brain atrophy and infantile spasms associated with cytochrome c oxidase deficiency.

H D Bakker1, C Van den Bogert, J G Drewes, P G Barth, H R Scholte, R J Wanders, W Ruitenbeek.   

Abstract

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Year:  1996        PMID： 8739953     DOI： 10.1007/bf01799417

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


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  5 in total

1.  Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy.

Authors:  W F Arts; H R Scholte; M C Loonen; H Przyrembel; J Fernandes; J M Trijbels; I E Luyt-Houwen
Journal:  J Neurol Sci       Date:  1987-01       Impact factor: 3.181

Review 2.  Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset.

Authors:  P G Barth
Journal:  Brain Dev       Date:  1993 Nov-Dec       Impact factor: 1.961

3.  Studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts: application to mitochondrial encephalomyopathies.

Authors:  R J Wanders; J P Ruiter; F A Wijburg
Journal:  Biochim Biophys Acta       Date:  1993-06-19

4.  Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy.

Authors:  L G Nijtmans; P G Barth; C R Lincke; M J Van Galen; R Zwart; P Klement; P A Bolhuis; W Ruitenbeek; R J Wanders; C Van den Bogert
Journal:  Biochim Biophys Acta       Date:  1995-04-24

5.  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
  5 in total
  2 in total

1.  Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects.

Authors:  Fernando Scaglia; Lee-Jun C Wong; Georgirene D Vladutiu; Jill V Hunter
Journal:  AJNR Am J Neuroradiol       Date:  2005-08       Impact factor: 3.825

2.  Mitochondrial respiratory chain complex IV deficiency presenting as neonatal respiratory distress syndrome.

Authors:  Shrinal Kotecha; Venkatesh Kairamkonda
Journal:  BMJ Case Rep       Date:  2019-07-15
  2 in total

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