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Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant.
Castro-Gago M, Gómez-Lado C, Pérez-Gay L, Eirís-Puñal J, Martínez EP, García-Consuegra I, Martín MA. Castro-Gago M, et al. J Child Neurol. 2011 Jun;26(6):734-7. doi: 10.1177/0883073810390367. Epub 2011 Feb 22. J Child Neurol. 2011. PMID: 21343608
We report a 6-month-old girl with the association of congenital muscle weakness and hypotonia, muscle deficiency of adenosine monophosphate deaminase, and the homozygous C to T mutation at nucleotide 34 of the adenosine monophosphate deaminase-1 gene. This observation indi …
We report a 6-month-old girl with the association of congenital muscle weakness and hypotonia, muscle deficiency of adenosine monophosphate …
Exercise efficiency impairment in metabolic myopathies.
Noury JB, Zagnoli F, Petit F, Marcorelles P, Rannou F. Noury JB, et al. Sci Rep. 2020 May 29;10(1):8765. doi: 10.1038/s41598-020-65770-y. Sci Rep. 2020. PMID: 32472082 Free PMC article.

The V'O(2)/Work-Rate slope for exercise was determined by linear regression analysis. Lower oxygen consumption (peak percent of predicted, mean SD; p < 0.04, one-way ANOVA) was seen in patients with glycogenoses (62.8 10.2%) and respiratory chain defects (70.8 23.3%) co

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The V'O(2)/Work-Rate slope for exercise was determined by linear regression analysis. Lower oxygen consumption (peak percent of predicted …
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.
Rannou F, Uguen A, Scotet V, Le Maréchal C, Rigal O, Marcorelles P, Gobin E, Carré JL, Zagnoli F, Giroux-Metges MA. Rannou F, et al. PLoS One. 2015 Jul 24;10(7):e0132972. doi: 10.1371/journal.pone.0132972. eCollection 2015. PLoS One. 2015. PMID: 26207760 Free PMC article. Clinical Trial.
Lactate, pyruvate, and ammonia concentrations were determined from venous blood samples drawn at rest, during exercise (50% predicted maximal power, peak exercise), and recovery (2, 5, 10, and 15 min). ...CONCLUSION: The present algorithm provides a non-invasive test to ac …
Lactate, pyruvate, and ammonia concentrations were determined from venous blood samples drawn at rest, during exercise (50% predicted …
Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.
Rannou F, Scotet V, Marcorelles P, Monnoyer R, Le Maréchal C. Rannou F, et al. PLoS One. 2017 Nov 2;12(11):e0187266. doi: 10.1371/journal.pone.0187266. eCollection 2017. PLoS One. 2017. PMID: 29095874 Free PMC article.
The metabolic-chronotropic relationship is more closely correlated with MAD activity in skeletal muscle (Rs = 0.57, p = 5.93E-7, Spearman correlation) than the presence of the common AMPD1 gene variant (Rs = 0.34, p = 0.005). Age-predicted O2 pulse ratio is significantly i …
The metabolic-chronotropic relationship is more closely correlated with MAD activity in skeletal muscle (Rs = 0.57, p = 5.93E-7, Spearman co …
Myoadenylate deaminase deficiency: a frequent cause of muscle pain A case detected by exercise testing.
Lim L, Palayer M, Bruneau A, Letournel F, Le Maréchal C, Simard G, Reynier P, Homedan C, Nadaj-Pakleza A. Lim L, et al. Ann Biol Clin (Paris). 2017 Aug 1;75(4):445-449. doi: 10.1684/abc.2017.1253. Ann Biol Clin (Paris). 2017. PMID: 28751290 Free article. English.
A moderate increase in creatine kinase (CK) was the only biological sign observed. This study takes a closer look at a common but poorly known pathology and highlights the interest of the dynamic metabolic investigations carried out during exercise stress test with a cycle …
A moderate increase in creatine kinase (CK) was the only biological sign observed. This study takes a closer look at a common but poo …