Literature DB >> 7026736

Biochemical and clinical studies of Friedreich's ataxia.

P Purkiss, M Baraitser, O Borud, R A Chalmers.   

Abstract

A series of biochemical tests aimed at elucidating the fundamental cause has been applied to 20 patients with Friedreich's ataxia. Special emphasis was placed upon pyruvate metabolism. The results demonstrate no precisely identifiable defect in the metabolism of pyruvate but indicate an abnormality in glucose uptake and metabolism.

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Year:  1981        PMID： 7026736      PMCID： PMC491061          DOI： 10.1136/jnnp.44.7.574

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  29 in total

1.  Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia.

Authors:  G Geoffroy; A Barbeau; G Breton; B Lemieux; M Aube; C Leger; J P Bouchard
Journal:  Can J Neurol Sci       Date:  1976-11       Impact factor: 2.104

2.  Lipoamide dehydrogenase in serum: a preliminary report.

Authors:  J W Pelley; G H Little; T C Linn; F F Hall
Journal:  Clin Chem       Date:  1976-02       Impact factor: 8.327

3.  Urinary organic acids in man. I. Normal patterns.

Authors:  A M Lawson; R A Chalmers; R W Watts
Journal:  Clin Chem       Date:  1976-08       Impact factor: 8.327

4.  The intravenous L-alanine tolerance test as a means for investigating gluconeogenesis.

Authors:  J Fernandes; W Blom
Journal:  Metabolism       Date:  1974-12       Impact factor: 8.694

5.  Pyruvate oxidation in neuromuscular diseases. Evidence of a genetic defect in two families with the clinical syndrome of Friedreich's ataxia.

Authors:  R A Kark; J P Blass; W K Engel
Journal:  Neurology       Date:  1974-10       Impact factor: 9.910

6.  The quantitative extraction and gas-liquid chromatographic determination of organic acids in urine.

Authors:  R A Chalmers; R W Watts
Journal:  Analyst       Date:  1972-12       Impact factor: 4.616

7.  Low activities of the pyruvate and oxoglutarate dehydrogenase complexes in five patients with Friedreich's ataxia.

Authors:  J P Blass; R A Kark; N K Menon
Journal:  N Engl J Med       Date:  1976-07-08       Impact factor: 91.245

8.  Glucose and insulin metabolism in Friedreich's ataxia.

Authors:  D Shapcott; S Melancon; R F Butterworth; K Khoury; R Collu; G Breton; G Geoffroy; B Lemieux; A Barbeau
Journal:  Can J Neurol Sci       Date:  1976-11       Impact factor: 2.104

9.  Genetic and family studies in Friedreich's ataxia.

Authors:  E Andermann; G M Remillard; C Goyer; L Blitzer; F Andermann; A Barbeau
Journal:  Can J Neurol Sci       Date:  1976-11       Impact factor: 2.104

10.  Bilirubin metabolism - preliminary investigation.

Authors:  A Barbeau; G Breton; B Lemieux; R F Butterworth
Journal:  Can J Neurol Sci       Date:  1976-11       Impact factor: 2.104
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  8 in total

1.  Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia.

Authors:  Antonio Costantini; Tiziana Laureti; Maria Immacolata Pala; Marco Colangeli; Simona Cavalieri; Elisa Pozzi; Alfredo Brusco; Sandro Salvarani; Carlo Serrati; Roberto Fancellu
Journal:  J Neurol       Date:  2016-08-03       Impact factor: 4.849

2.  Mitochondrial malic enzyme in Friedreich's ataxia: failure to demonstrate reduced activity in cultured fibroblasts.

Authors:  R G Gray; D Kumar
Journal:  J Neurol Neurosurg Psychiatry       Date:  1985-01       Impact factor: 10.154

Review 3.  Degenerative ataxic disorders: still perplexing.

Authors:  A Harding
Journal:  Br Med J (Clin Res Ed)       Date:  1987-11-14

4.  Biochemical vitamin deficiencies in Friedreich's ataxia.

Authors:  R F Gledhill; D Labadarios
Journal:  J Neurol Neurosurg Psychiatry       Date:  1984-01       Impact factor: 10.154

Review 5.  Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.

Authors:  Renata Santos; Sophie Lefevre; Dominika Sliwa; Alexandra Seguin; Jean-Michel Camadro; Emmanuel Lesuisse
Journal:  Antioxid Redox Signal       Date:  2010-09-01       Impact factor: 8.401

6.  High-dose thiamine improves the symptoms of Friedreich's ataxia.

Authors:  Antonio Costantini; Rafaela Giorgi; Sonia D'Agostino; Maria Immacolata Pala
Journal:  BMJ Case Rep       Date:  2013-05-22

7.  Thiamine status in inherited degenerative ataxias.

Authors:  O L Pedraza; M I Botez
Journal:  J Neurol Neurosurg Psychiatry       Date:  1992-02       Impact factor: 10.154

8.  Serum Dihydrolipoamide Dehydrogenase Is a Labile Enzyme.

Authors:  Liang-Jun Yan; Nopporn Thangthaeng; Nathalie Sumien; Michael J Forster
Journal:  J Biochem Pharmacol Res       Date:  2013-03
  8 in total

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