Literature DB >> 2512441

Familial NADH: Q1 oxidoreductase (complex I) deficiency: variable expression and possible treatment.

F A Wijburg1, P G Barth, W Ruitenbeek, R J Wanders, G D Vos, S L Ploos van Amstel, R B Schutgens.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1989        PMID： 2512441     DOI： 10.1007/bf03335419

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


× No keyword cloud information.
  6 in total

1.  DT diaphorase. II. Relation to respiratory chain of intact mitochondira.

Authors:  T E CONOVER; L ERNSTER
Journal:  Biochim Biophys Acta       Date:  1962-04-09

Review 2.  Mitochondrial myopathies.

Authors:  S DiMauro; E Bonilla; M Zeviani; S Servidei; D C DeVivo; E A Schon
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

3.  NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin.

Authors:  W F Arts; H R Scholte; J M Bogaard; K F Kerrebijn; I E Luyt-Houwen
Journal:  Lancet       Date:  1983-09-03       Impact factor: 79.321

4.  31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle.

Authors:  S Eleff; N G Kennaway; N R Buist; V M Darley-Usmar; R A Capaldi; W J Bank; B Chance
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

5.  Childhood mitochondrial myopathy with ophthalmoplegia.

Authors:  J M Land; J M Hockaday; J T Hughes; B D Ross
Journal:  J Neurol Sci       Date:  1981-09       Impact factor: 3.181

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
  6 in total
  5 in total

1.  Restoration of NADH-oxidation in complex I and complex III deficient fibroblasts by menadione.

Authors:  F A Wijburg; C J de Groot; N Feller; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

2.  Familial mitochondrial complex I deficiency with an abnormal mitochondrial encoded protein.

Authors:  P G Barth; P A Bolhuis; F A Wijburg; K M Sinjorgo; W Ruitenbeek; R B Schutgens
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  Mitochondrial myopathies: multiple enzyme defects in the respiratory chain.

Authors:  W Ruitenbeek; J M Trijbels; J C Fischer; R C Sengers; A J Janssen; C M Kerkhof
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

4.  Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies.

Authors:  G C Korenke; H A Bentlage; W Ruitenbeek; R C Sengers; W Sperl; J M Trijbels; F J Gabreels; F A Wijburg; V Wiedermann; F Hanefeld
Journal:  Eur J Pediatr       Date:  1990-12       Impact factor: 3.183

5.  Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis.

Authors:  H D Bakker; H R Scholte; J A Jeneson; H F Busch; N G Abeling; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.