Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Laura Assunta Saielli"'
Autor:
Alessia Mauri, Laura Assunta Saielli, Enrico Alfei, Maria Iascone, Daniela Marchetti, Elisa Cattaneo, Anna Di Lauro, Laura Antonelli, Luisella Alberti, Eleonora Bonaventura, Pierangelo Veggiotti, Luigina Spaccini, Cristina Cereda
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Menkes disease is an X‐linked recessive condition caused by mutations in the ATP7A gene, which leads to severe copper deficiency. Aminoacylase-1 deficiency is a rare inborn error of metabolism caused by homozygous or compound heterozy
Externí odkaz:
https://doaj.org/article/d1d5fd7869b040fb9901fef9c3fa9711
Autor:
Marialuisa Valente, Davide Tonduti, Pierangelo Veggiotti, Carlo Corbetta, Maria Iascone, Silvia Masnada, Luisa Chiapparini, Chiara Doneda, Luisella Alberti, Laura Assunta Saielli, Cecilia Parazzini, Mario Barbarini, Paolo Bini, Annalisa De Silvestri, Cristina Cereda
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 28
Introduction ECHS1 encodes for short-chain enoyl-CoA hydratase, a key component in b-oxidation. This enzyme is also involved in the isoleucine and valine catabolic pathways. The literature contains reports of scattered cases of ECHS1 mutation, which