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1. Full Text Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene
by Mahmutoglu, S and Ndika, J.D.T and Kanhai, W and de Villemeur, T.B and Cheillan, D and Christensen, E and Dorison, N and Hannig, V and Heniks, Y.M.C and Hofstede, F.C and Lion-Francois, L and Lund, A.M and Mundy, H and Pitelet, G and Raspall-Chaure, M and Scott-Schwoerer, J.A and Szakszon, K and Valayannopoulos, V and Williams, M and Salomons, G.S
Human Mutation, ISSN 1059-7794, 2014, Volume 35, Issue 4, pp. 462 - 469
ABSTRACT Guanidinoacetate methyltransferase deficiency (GAMT‐D) is an autosomal recessively inherited disorder of creatine biosynthesis. Creatine deficiency on... 
GAMT | GAMT‐D | site‐directed mutagenesis | missense variants | GAMT-D | Missense variants | Site-directed mutagenesis | site-directed mutagenesis | RAT-LIVER | MENTAL-RETARDATION | INBORN ERROR | FEATURES | CREATINE | IMPACT | ENZYME | METABOLISM | GENETICS & HEREDITY | BRAIN | Fibroblasts - enzymology | Genetic Predisposition to Disease | Guanidinoacetate N-Methyltransferase - genetics | Language Development Disorders - genetics | Movement Disorders - pathology | Humans | Language Development Disorders - pathology | Child, Preschool | Male | Mutation, Missense | Guanidinoacetate N-Methyltransferase - metabolism | Genetic Variation | Young Adult | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Adolescent | Adult | Female | Surveys and Questionnaires | Movement Disorders - genetics | Child | Analysis | Genes | Transferases | Lions | Physiological aspects | Nuclear magnetic resonance spectroscopy | Chemical properties | Enzymes | Nuclear magnetic resonance--NMR | Mutation | Index Medicus | Life Sciences
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