Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene

Autor: Diego Martinelli, Roser Pons, Michela Semeraro, Rosalba Carrozzo, Laura Martí-Sánchez, Luis Aldámiz-Echevarría, Belén Pérez-Dueñas, Carlo Dionisi-Vici, Juan Darío Ortigoza-Escobar, Filip Roelens, Mireia del Toro, Ignacio Delgado, Luis González-Gutiérrez-Solana, Roser Urreizti, Serena Galosi, Laura Pérez-Gay, Manuela Tolve, Anna Marcé-Grau, Luca Pollini, Antonia Ribes, Cristiano Rizzo, Elida Vazquez, Antonio Arranz, Eduardo López-Laso, Maria Eugenia Yoldi, Rafael Artuch, Anastasia Skouma, Sergio Aguilera-Albesa, Maria Sigatullina, Vincenzo Leuzzi, Angel Sanchez-Montanez, Marta Correa-Vela, Alfons Macaya, Heidy Baide-Mairena, Frederic Tort

Publikováno v: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

The neurological phenotype of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) and short-chain enoyl-CoA hydratase (SCEH) defects is expanding and natural history studies are necessary to improve clinical management. From 42 patients with Leigh syndrome stu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba825837c0e601fec6f258334f476d4e
https://pubmed.ncbi.nlm.nih.gov/32677093