Literature DB >> 4370305

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

R A Kark, J P Blass, W K Engel.   

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Year:  1974        PMID: 4370305     DOI: 10.1212/wnl.24.10.964

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


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  3 in total

1.  Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets.

Authors:  Andrew J Worth; Sankha S Basu; Eric C Deutsch; Wei-Ting Hwang; Nathaniel W Snyder; David R Lynch; Ian A Blair
Journal:  Bioanalysis       Date:  2015       Impact factor: 2.681

2.  Biochemical and clinical studies of Friedreich's ataxia.

Authors:  P Purkiss; M Baraitser; O Borud; R A Chalmers
Journal:  J Neurol Neurosurg Psychiatry       Date:  1981-07       Impact factor: 10.154

3.  The clinical spectrum of Friedreich's ataxia in German families showing linkage to the FRDA locus on chromosome 9.

Authors:  W Müller-Felber; T Rossmanith; C Spes; S Chamberlain; D Pongratz; T Deufel
Journal:  Clin Investig       Date:  1993-02
  3 in total

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