Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Juan José Ochoa-Amor"'
Autor:
José Ignacio Lao-Villadóniga, Rafael Artuch, Francisco Javier Gascón-Jiménez, Juan José Ochoa-Sepúlveda, Aida Ormazabal, Katrin Beyer, Eduardo López-Laso, Camino-León R, Juan José Ochoa-Amor, M. E. Mateos-Gonzalez, Enrique Bescansa-Heredero, Juan Luis Pérez-Navero
Publikováno v:
Journal of neurology. 256(11)
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency is an inborn error of neurotransmitter metabolism, with a prevalence of 0.5 per million, caused by mutations/deletions in the GCH1 gene. The finding of the mutation Q89X in the GCH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ccca5bd8d21bf539f5b974c3ed82d1f
https://pubmed.ncbi.nlm.nih.gov/19533203
https://pubmed.ncbi.nlm.nih.gov/19533203
