Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Autor: Vincenzo Leuzzi, Helena Caldeira Araújo, G. Christoph Korenke, K. T. Verbruggen, Vassiliki Konstantopoulou, Vassili Valayannopoulos, Goknur Haliloglu, Saadet Mercimek-Mahmutoglu, Aizeddin A. Mhanni, Sylvia Stockler-Ipsiroglu, Brad Angle, Michael T. Geraghty, Jennifer MacKenzie, Bruce A. Barshop, Andrew P. Morris, Andrea Schlune, Andreas Schulze, Clara D.M. van Karnebeek, Francjan J. van Spronsen, Iris Marquart, Bruno Maranda, Deborah L. Renaud, William L. Nyhan, Grant A. Mitchell, Nataliya Yuskiv, Turgay Coşkun, Christiane Grolik, Luísa Diogo, Theresa Newlove, Nicola Longo, Alina Levtova, Fernando Scaglia

Publikováno v: Molecular genetics and metabolism, 111(1), 16-25. Academic Press Inc.
Molecular Genetics and Metabolism, 111(1), 16-25. ACADEMIC PRESS INC ELSEVIER SCIENCE

We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as the most affected domains wa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::997919072adb3c194893ec96d389a5c4
https://pubmed.ncbi.nlm.nih.gov/24477282