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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.
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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  Data: Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
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  Data: <searchLink fieldCode="AU" term="%22Marti-Sanchez+L%22">Marti-Sanchez L</searchLink>; Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Baide-Mairena+H%22">Baide-Mairena H</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Marcé-Grau+A%22">Marcé-Grau A</searchLink>; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Pons+R%22">Pons R</searchLink>; Department of Paediatric Neurology, Hospital Agia Sofia, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Skouma+A%22">Skouma A</searchLink>; Institute of Child Health, Agia Sofia Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22López-Laso+E%22">López-Laso E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Sigatullina+M%22">Sigatullina M</searchLink>; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Rizzo+C%22">Rizzo C</searchLink>; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Semeraro+M%22">Semeraro M</searchLink>; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Martinelli+D%22">Martinelli D</searchLink>; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Carrozzo+R%22">Carrozzo R</searchLink>; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Dionisi-Vici+C%22">Dionisi-Vici C</searchLink>; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22González-Gutiérrez-Solana+L%22">González-Gutiérrez-Solana L</searchLink>; CIBERER-ISCIII, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain.; Department of Pediatric Neurology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Correa-Vela+M%22">Correa-Vela M</searchLink>; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Ortigoza-Escobar+JD%22">Ortigoza-Escobar JD</searchLink>; Department of Paediatric Neurology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Sánchez-Montañez+Á%22">Sánchez-Montañez Á</searchLink>; Department of Neuroradiology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Vazquez+É%22">Vazquez É</searchLink>; Department of Neuroradiology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Delgado+I%22">Delgado I</searchLink>; Department of Neuroradiology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Aguilera-Albesa+S%22">Aguilera-Albesa S</searchLink>; Unit of Paediatric Neurology, Department of Pediatrics, Complejo Hospitalario de Navarra, Navarrabiomed, Pamplona, Spain.<br /><searchLink fieldCode="AU" term="%22Yoldi+ME%22">Yoldi ME</searchLink>; Unit of Paediatric Neurology, Department of Pediatrics, Complejo Hospitalario de Navarra, Navarrabiomed, Pamplona, Spain.<br /><searchLink fieldCode="AU" term="%22Ribes+A%22">Ribes A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Tort+F%22">Tort F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Pollini+L%22">Pollini L</searchLink>; Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Galosi+S%22">Galosi S</searchLink>; Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Leuzzi+V%22">Leuzzi V</searchLink>; Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Tolve+M%22">Tolve M</searchLink>; Department of Experimental Medicine, Sapienza University, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Pérez-Gay+L%22">Pérez-Gay L</searchLink>; Unit of Paediatric Neurology, Hospital Universitario Lucus Augusti, Lugo, Spain.<br /><searchLink fieldCode="AU" term="%22Aldamiz-Echevarría+L%22">Aldamiz-Echevarría L</searchLink>; Department of Pediatric Metabolism, University Cruces Hospital, Barakaldo, Spain.<br /><searchLink fieldCode="AU" term="%22Del+Toro+M%22">Del Toro M</searchLink>; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Arranz+A%22">Arranz A</searchLink>; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Roelens+F%22">Roelens F</searchLink>; Pediatric Neurology, AZ Delta, Roeselare, Belgium.<br /><searchLink fieldCode="AU" term="%22Urreizti+R%22">Urreizti R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Artuch+R%22">Artuch R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Macaya+A%22">Macaya A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Pérez-Dueñas+B%22">Pérez-Dueñas B</searchLink>; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain.
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  Data: <searchLink fieldCode="JN" term="%227910918%22">Journal of inherited metabolic disease</searchLink> [J Inherit Metab Dis] 2021 Mar; Vol. 44 (2), pp. 401-414. <i>Date of Electronic Publication: </i>2020 Aug 16.
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