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Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Marti-Sanchez, Laura; Baide-Mairena, Heidy; Marcé-Grau, Anna; Pons, Roser; Skouma, Anastasia; López-Laso, Eduardo; Sigatullina, Maria; Rizzo, Cristiano; Semeraro, Michela; Martinelli, Diego; Carrozzo, Rosalba; Dionisi-Vici, Carlo; González-Gutiérrez-Solana, Luis; Correa-Vela, Marta; Ortigoza-Escobar, Juan Dario; Sánchez-Montañez, Ángel; Vazquez, Élida; Delgado, Ignacio; Aguilera-Albesa, Sergio; Yoldi, María Eugenia; Ribes, Antonia; Tort, Frederic; Pollini, Luca; Galosi, Serena; Leuzzi, Vincenzo; Tolve, Manuela; Pérez-Gay, Laura; Aldamiz-Echevarría, Luis; Del Toro, Mireia; Arranz, Antonio; Roelens, Filip; Urreizti, Roser; Artuch, Rafael; Macaya, Alfons; Pérez-Dueñas, Belén.
Afiliação
  • Marti-Sanchez L; Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
  • Baide-Mairena H; Universitat de Barcelona, Barcelona, Spain.
  • Marcé-Grau A; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.
  • Pons R; Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Skouma A; Department of Paediatrics, Hospital General de Granollers, Granollers, Spain.
  • López-Laso E; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.
  • Sigatullina M; Department of Paediatric Neurology, Hospital Agia Sofia, Athens, Greece.
  • Rizzo C; Institute of Child Health, Agia Sofia Children's Hospital, Athens, Greece.
  • Semeraro M; Unit of Paediatric Neurology, Department of Pediatrics, University Hospital Reina Sofía, Córdoba, Spain.
  • Martinelli D; Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Córdoba, Spain.
  • Carrozzo R; CIBERER-ISCIII, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain.
  • Dionisi-Vici C; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.
  • González-Gutiérrez-Solana L; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.
  • Correa-Vela M; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.
  • Ortigoza-Escobar JD; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.
  • Sánchez-Montañez Á; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.
  • Vazquez É; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.
  • Delgado I; CIBERER-ISCIII, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain.
  • Aguilera-Albesa S; Department of Pediatric Neurology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
  • Yoldi ME; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.
  • Ribes A; Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Tort F; Department of Paediatric Neurology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
  • Pollini L; Department of Neuroradiology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain.
  • Galosi S; Department of Neuroradiology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain.
  • Leuzzi V; Department of Neuroradiology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain.
  • Tolve M; Unit of Paediatric Neurology, Department of Pediatrics, Complejo Hospitalario de Navarra, Navarrabiomed, Pamplona, Spain.
  • Pérez-Gay L; Unit of Paediatric Neurology, Department of Pediatrics, Complejo Hospitalario de Navarra, Navarrabiomed, Pamplona, Spain.
  • Aldamiz-Echevarría L; CIBERER-ISCIII, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain.
  • Del Toro M; Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
  • Arranz A; CIBERER-ISCIII, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain.
  • Roelens F; Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
  • Urreizti R; Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.
  • Artuch R; Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.
  • Macaya A; Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.
  • Pérez-Dueñas B; Department of Experimental Medicine, Sapienza University, Rome, Italy.
J Inherit Metab Dis ; 44(2): 401-414, 2021 03.
Article em En | MEDLINE | ID: mdl-32677093
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tioléster Hidrolases / Valina / Anormalidades Múltiplas / Doença de Leigh / Distonia / Enoil-CoA Hidratase / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Clinical_trials / Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tioléster Hidrolases / Valina / Anormalidades Múltiplas / Doença de Leigh / Distonia / Enoil-CoA Hidratase / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Clinical_trials / Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article