Literature DB >> 6574314

Hypoxanthine and Mcardle disease: a clue to metabolic stress in the working forearm.

M H Brooke, V H Patterson, K K Kaiser.   

Abstract

Forearm exercise in a patient with myophosphorylase deficiency resulted in abnormally high levels of hypoxanthine in the venous blood. The post-exercise hypoxanthine response may reflect ATP depletion in the muscle and provides a useful screening test in muscle diseases with abnormal energy metabolism.

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Year:  1983        PMID： 6574314     DOI： 10.1002/mus.880060307

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


  8 in total

1.  Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model.

Authors:  Astrid Brull; Noemí de Luna; Albert Blanco-Grau; Alejandro Lucia; Miguel Angel Martin; Joaquin Arenas; Ramon Martí; Antoni L Andreu; Tomàs Pinós
Journal:  J Physiol       Date:  2015-05-18       Impact factor: 5.182

2.  Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy.

Authors:  Nigel F Delaney; Rohit Sharma; Laura Tadvalkar; Clary B Clish; Ronald G Haller; Vamsi K Mootha
Journal:  Proc Natl Acad Sci U S A       Date:  2017-07-17       Impact factor: 11.205

3.  McArdle's disease: successful symptomatic therapy by high dose oral administration of ribose.

Authors:  D R Wagner; N Zöllner
Journal:  Klin Wochenschr       Date:  1991-01-22

Review 4.  McArdle disease: a unique study model in sports medicine.

Authors:  Alfredo Santalla; Gisela Nogales-Gadea; Niels Ørtenblad; Astrid Brull; Noemi de Luna; Tomàs Pinós; Alejandro Lucia
Journal:  Sports Med       Date:  2014-11       Impact factor: 11.136

5.  The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.

Authors:  Gisela Nogales-Gadea; Alfredo Santalla; Astrid Brull; Noemi de Luna; Alejandro Lucia; Tomàs Pinós
Journal:  J Inherit Metab Dis       Date:  2014-07-23       Impact factor: 4.982

6.  Excess purine degradation in exercising muscles of patients with glycogen storage disease types V and VII.

Authors:  I Mineo; N Kono; T Shimizu; N Hara; Y Yamada; S Sumi; K Nonaka; S Tarui
Journal:  J Clin Invest       Date:  1985-08       Impact factor: 14.808

7.  McArdle Disease and Exercise Physiology.

Authors:  Yu Kitaoka
Journal:  Biology (Basel)       Date:  2014-02-25

Review 8.  Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.

Authors:  Mónica Villarreal-Salazar; Astrid Brull; Gisela Nogales-Gadea; Antoni L Andreu; Miguel A Martín; Joaquín Arenas; Alfredo Santalla; Alejandro Lucia; John Vissing; Thomas O Krag; Tomàs Pinós
Journal:  Genes (Basel)       Date:  2021-12-28       Impact factor: 4.096
  8 in total

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