Title: | Exercise testing-based algorithms to diagnose McArdle disease and MAD defects |
Journal : | Acta neurologica Scandinavica, 138, 4 |
Authors: | Noury JB, Author ; Zagnoli F ; Carre JL ; Drouillard I ; Petit F ; Le Maréchal C ; Marcorelles P ; Rannou F |
Material Type: | Article |
Publisher: | Denmark, 2018 |
Size: | p. 301-307 |
Languages: | English |
Keywords : | clinical trials ; hereditary metabolic myopathy ; myoadenylate deaminase ; myoadenylate deaminase deficiency |
Keywords: | AMP Deaminase deficiency;AMP Deaminase genetics;Adolescent;Adult;Algorithms;Exercise;Exercise Test;Female;Glycogen Storage Disease Type V diagnosis;Glycogen Storage Disease Type V genetics;Glycogen Storage Disease Type V physiopathology;Hand Strength;Humans;Male;Middle Aged;Mutation genetics;Prospective Studies;Young Adult; |
Pubmed / DOI : | Pubmed : 29749052 / DOI : 10.1111/ane.12957 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29749052 |