Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

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

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

Autor: 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.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Mar; Vol. 44 (2), pp. 401-414. Date of Electronic Publication: 2020 Aug 16.