myoadenylate deaminase deficiency
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scholarly journals Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency

PLoS ONE ◽  
2017 ◽  
Vol 12 (11) ◽  
pp. e0187266 ◽  
Author(s):  
Fabrice Rannou ◽  
Virginie Scotet ◽  
Pascale Marcorelles ◽  
Roxane Monnoyer ◽  
Cédric Le Maréchal
Keyword(s):  
Common Mutation ◽  
Myoadenylate Deaminase Deficiency ◽  
Myoadenylate Deaminase

Myoadenylate deaminase deficiency: a frequent cause of muscle pain A case detected by exercise testing

2017 ◽  
Vol 75 (4) ◽  
pp. 445-449
Author(s):  
Lydie Lim ◽  
Maeva Palayer ◽  
Antoine Bruneau ◽  
Franck Letournel ◽  
Cédric Le Maréchal ◽  
...  
Keyword(s):  
Exercise Testing ◽  
Muscle Pain ◽  
Myoadenylate Deaminase Deficiency ◽  
Myoadenylate Deaminase

scholarly journals Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study

PLoS ONE ◽  
2015 ◽  
Vol 10 (7) ◽  
pp. e0132972 ◽  
Author(s):  
Fabrice Rannou ◽  
Arnaud Uguen ◽  
Virginie Scotet ◽  
Cédric Le Maréchal ◽  
Odile Rigal ◽  
...  
Keyword(s):  
Prospective Study ◽  
Exercise Testing ◽  
Diagnostic Algorithm ◽  
Myoadenylate Deaminase Deficiency ◽  
Myoadenylate Deaminase ◽  
A Prospective Study

Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases

2009 ◽  
Vol 28 (03) ◽  
pp. 136-142 ◽  
Author(s):  
S. Teijeira ◽  
B. San Millán ◽  
J.M. Fernández ◽  
E. Rivas ◽  
I. Viéitez ◽  
...  
Keyword(s):  
Molecular Study ◽  
Myoadenylate Deaminase Deficiency ◽  
Myoadenylate Deaminase
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