Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
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| Title: | Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene. |
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| Authors: | Marti-Sanchez L; Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain., Baide-Mairena H; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Paediatrics, Hospital General de Granollers, Granollers, Spain., Marcé-Grau A; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain., Pons R; Department of Paediatric Neurology, Hospital Agia Sofia, Athens, Greece., Skouma A; Institute of Child Health, Agia Sofia Children's Hospital, Athens, Greece., López-Laso E; Unit of Paediatric Neurology, Department of Pediatrics, University Hospital Reina Sofía, Córdoba, Spain.; Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Córdoba, Spain.; CIBERER-ISCIII, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain., Sigatullina M; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain., Rizzo C; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy., Semeraro M; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy., Martinelli D; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy., Carrozzo R; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy., Dionisi-Vici C; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy., González-Gutiérrez-Solana L; CIBERER-ISCIII, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain.; Department of Pediatric Neurology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Correa-Vela M; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain., Ortigoza-Escobar JD; Department of Paediatric Neurology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain., Sánchez-Montañez Á; Department of Neuroradiology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain., Vazquez É; Department of Neuroradiology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain., Delgado I; Department of Neuroradiology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain., Aguilera-Albesa S; Unit of Paediatric Neurology, Department of Pediatrics, Complejo Hospitalario de Navarra, Navarrabiomed, Pamplona, Spain., Yoldi ME; Unit of Paediatric Neurology, Department of Pediatrics, Complejo Hospitalario de Navarra, Navarrabiomed, Pamplona, Spain., Ribes A; CIBERER-ISCIII, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain.; Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Tort F; CIBERER-ISCIII, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain.; Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Pollini L; Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy., Galosi S; Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy., Leuzzi V; Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy., Tolve M; Department of Experimental Medicine, Sapienza University, Rome, Italy., Pérez-Gay L; Unit of Paediatric Neurology, Hospital Universitario Lucus Augusti, Lugo, Spain., Aldamiz-Echevarría L; Department of Pediatric Metabolism, University Cruces Hospital, Barakaldo, Spain., Del Toro M; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain., Arranz A; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain., Roelens F; Pediatric Neurology, AZ Delta, Roeselare, Belgium., Urreizti R; Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; CIBERER-ISCIII, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain., Artuch R; Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; CIBERER-ISCIII, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain., Macaya A; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain.; CIBERER-ISCIII, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain., Pérez-Dueñas B; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain. |
| Source: | Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Mar; Vol. 44 (2), pp. 401-414. Date of Electronic Publication: 2020 Aug 16. |
| Publication Type: | Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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