Associated Papers
Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment.
Raaz C et al.
Case Reports in Genetics, 2026
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
Burwinkel B et al.
American Journal of Human Genetics, 2005
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.
Davit-Spraul A et al.
Molecular Genetics and Metabolism, 0
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