Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Anne Panchout"'
Autor:
Minh-Tuan Huynh, Emilie Landais, Jean-Madeleine De Sainte Agathe, Anne Panchout, De Vanssay De Blavous-Legendre Caroline, Henri Bruel
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 34, Iss , Pp 100959- (2023)
Glycine encephalopathy (MIM #605899) is an autosomal recessive inborn error of metabolism caused by pathogenic variants in three genes GLDC, AMT, GCSH encoding glycine cleavage enzyme system. We report an 8-year-old boy with late-onset glycine enceph
Externí odkaz:
https://doaj.org/article/69abc2e37a224567b8f6c0ca5d472000
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100228- (2023)
Externí odkaz:
https://doaj.org/article/4e67bc8f926041e5ba6957afa7f2a105
Autor:
Minh-Tuan Huynh, Stéphanie Potel, Sophie Degre, Anne Panchout, Cathy Bréon, Detlef Trost, Alexis Proust, Jérôme Bouligand, Anne-Claire Bréhin, Sophie Patrier-Sallebert, Aicha Boughalem
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100668- (2023)
Externí odkaz:
https://doaj.org/article/fd74b68496c7493fa86855279094e13c