Delineating the neurological phenotype in children with defects in the
ECHS1
or
HIBCH
gene
Laura Marti‐Sanchez,Heidy Baide‐Mairena,Anna Marcé‐Grau,Roser Pons,Anastasia Skouma,Eduardo López‐Laso, Maria Sigatullina,Cristiano Rizzo,Michela Semeraro,Diego Martinelli,Rosalba Carrozzo,Carlo Dionisi‐Vici, Luis González‐Gutiérrez‐Solana,Marta Correa‐Vela,Juan Dario Ortigoza‐Escobar,Ángel Sánchez‐Montañez,Élida Vazquez,Ignacio Delgado, Sergio Aguilera‐Albesa, María Eugenia Yoldi,Antonia Ribes,Frederic Tort,Luca Pollini,Serena Galosi,Vincenzo Leuzzi,Manuela Tolve, Laura Pérez‐Gay,Luis Aldamiz‐Echevarría,Mireia Del Toro, Antonio Arranz, Filip Roelens,Roser Urreizti,Rafael Artuch,Alfons Macaya,Belén Pérez‐Dueñas Journal of Inherited Metabolic Disease（2020）
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