Literature DB >> 1405466

Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis.

H R Scholte1, H F Busch, I E Luyt-Houwen.   

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Year:  1992        PMID: 1405466     DOI: 10.1007/bf02435969

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


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  7 in total

1.  Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells.

Authors:  H R Scholte; H F Busch; I E Luyt-Houwen; M H Vaandrager-Verduin; H Przyrembel; W F Arts
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

Review 2.  Disorders of the pyruvate dehydrogenase complex.

Authors:  D Stansbie; S J Wallace; C Marsac
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

3.  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

4.  Oxidative phosphorylation in human muscle in patients with ocular myopathy and after general anaesthesia.

Authors:  H R Scholte; E Agsteribbe; H F Busch; T U Hoogenraad; F G Jennekens; B van Linge; I E Luyt-Houwen; J D Ross; M H Ruiters; M H Verduin
Journal:  Biochim Biophys Acta       Date:  1990-07-25

5.  Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens.

Authors:  H Bookelman; J M Trijbels; R C Sengers; A J Janssen
Journal:  Biochem Med       Date:  1978-06

Review 6.  The role of the carnitine system in myocardial fatty acid oxidation: carnitine deficiency, failing mitochondria and cardiomyopathy.

Authors:  H R Scholte; I E Luyt-Houwen; M H Vaandrager-Verduin
Journal:  Basic Res Cardiol       Date:  1987       Impact factor: 17.165

Review 7.  Thiamine-responsive inborn errors of metabolism.

Authors:  M Duran; S K Wadman
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

  7 in total
  4 in total

Review 1.  The treatment of congenital lactic acidoses.

Authors:  A A Morris; J V Leonard
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency.

Authors:  Pilar Gonzalez-Cabo; Sheila Ros; Francesc Palau
Journal:  PLoS One       Date:  2010-01-25       Impact factor: 3.240

3.  The effects of endurance training and thiamine supplementation on anti-fatigue during exercise.

Authors:  Sung-Keun Choi; Seung-Hui Baek; Seung-Wook Choi
Journal:  J Exerc Nutrition Biochem       Date:  2013-11-17

4.  Acupuncture for the Treatment of Oculomotor Paralysis: A Pilot Randomised Controlled Trial.

Authors:  Jia-Qi Bi; Wei Li; Qi Yang; Bao-Lin Li; Qing-Gang Meng; Yu-Fu Liu
Journal:  Evid Based Complement Alternat Med       Date:  2016-05-24       Impact factor: 2.629

  4 in total

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