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

scholarly journals Myoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humans

2001 ◽  
Vol 533 (3) ◽  
pp. 881-889 ◽  
Author(s):  
Mark A. Tarnopolsky ◽  
Gianni Parise ◽  
Martin J. Gibala ◽  
Terry E. Graham ◽  
James W. E. Rush
Keyword(s):  
Exhaustive Exercise ◽  
Myoadenylate Deaminase Deficiency ◽  
Myoadenylate Deaminase ◽  
Exercise In Humans

Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophy

1986 ◽  
Vol 7 (1) ◽  
pp. 107-112 ◽  
Author(s):  
G. Uziel ◽  
F. Cornelio ◽  
C. Gellera ◽  
G. Perego ◽  
M. Rimoldi ◽  
...  
Keyword(s):  
Olivopontocerebellar Atrophy ◽  
Myoadenylate Deaminase Deficiency ◽  
Myoadenylate Deaminase

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 in children

1985 ◽  
Vol 1 (3) ◽  
pp. 185-191 ◽  
Author(s):  
Stephen Ashwal ◽  
Norman Peckham
Keyword(s):  
Myoadenylate Deaminase Deficiency ◽  
Myoadenylate Deaminase

Myoadenylate deaminase deficiency myopathy in pregnancy

1997 ◽  
Vol 259 (3) ◽  
pp. 157-159 ◽  
Author(s):  
J. Bellver ◽  
J. Cervera ◽  
A. Boldó ◽  
A. Abad ◽  
A. Perales ◽  
...  
Keyword(s):  
Myoadenylate Deaminase Deficiency ◽  
Myoadenylate Deaminase ◽  
In Pregnancy

Familial myoadenylate deaminase deficiency and exertional myalgia

Neurology ◽  
1982 ◽  
Vol 32 (8) ◽  
pp. 857-857 ◽  
Author(s):  
J. Kelemen ◽  
D. R. Rice ◽  
W. G. Bradley ◽  
T. L. Munsat ◽  
S. DiMauro ◽  
...  
Keyword(s):  
Myoadenylate Deaminase Deficiency ◽  
Myoadenylate Deaminase

Myoadenylate deaminase deficiency: a new disease of muscle

Science ◽  
1978 ◽  
Vol 200 (4341) ◽  
pp. 545-548 ◽  
Author(s):  
W. Fishbein ◽  
V. Armbrustmacher ◽  
J. Griffin
Keyword(s):  
New Disease ◽  
Myoadenylate Deaminase Deficiency ◽  
Myoadenylate Deaminase
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