Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene-Reference-Cited by-同舟云学术

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

Published:2020-08-16 Issue:2 Volume:44 Page:401-414
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Marti‐Sanchez Laura¹²,Baide‐Mairena Heidy³⁴⁵,Marcé‐Grau Anna³,Pons Roser⁶,Skouma Anastasia⁷,López‐Laso Eduardo⁸⁹¹⁰,Sigatullina Maria³,Rizzo Cristiano¹¹,Semeraro Michela¹¹,Martinelli Diego¹¹,Carrozzo Rosalba¹¹,Dionisi‐Vici Carlo¹¹,González‐Gutiérrez‐Solana Luis¹⁰¹²,Correa‐Vela Marta³⁴,Ortigoza‐Escobar Juan Dario¹³,Sánchez‐Montañez Ángel¹⁴,Vazquez Élida¹⁴,Delgado Ignacio¹⁴,Aguilera‐Albesa Sergio¹⁵,Yoldi María Eugenia¹⁵,Ribes Antonia¹⁰¹⁶,Tort Frederic¹⁰¹⁶,Pollini Luca¹⁷,Galosi Serena¹⁷,Leuzzi Vincenzo¹⁷,Tolve Manuela¹⁸,Pérez‐Gay Laura¹⁹,Aldamiz‐Echevarría Luis²⁰,Del Toro Mireia³,Arranz Antonio³,Roelens Filip²¹,Urreizti Roser¹¹⁰,Artuch Rafael¹¹⁰,Macaya Alfons³⁴¹⁰,Pérez‐Dueñas Belén³⁴^ORCID

Affiliation:

1. Department of Clinical Biochemistry Institut de Recerca Sant Joan de Déu Barcelona Spain

2. Universitat de Barcelona Barcelona Spain

3. Pediatric Neurology Research Group Hospital Vall d'Hebrón Barcelona Spain

4. Universitat Autònoma de Barcelona Barcelona Spain

5. Department of Paediatrics Hospital General de Granollers Granollers Spain

6. Department of Paediatric Neurology Hospital Agia Sofia Athens Greece

7. Institute of Child Health Agia Sofia Children's Hospital Athens Greece

8. Unit of Paediatric Neurology, Department of Pediatrics University Hospital Reina Sofía Córdoba Spain

9. Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC) Córdoba Spain

10. CIBERER‐ISCIII, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras Madrid Spain

11. Division of Metabolism Bambino Gesù Children's Hospital Rome Italy

12. Department of Pediatric Neurology Hospital Infantil Universitario Niño Jesús Madrid Spain

13. Department of Paediatric Neurology Hospital Sant Joan de Déu, University of Barcelona Barcelona Spain

14. Department of Neuroradiology Hospital Vall d'Hebron – Institut de Recerca (VHIR) Barcelona Spain

15. Unit of Paediatric Neurology, Department of Pediatrics Complejo Hospitalario de Navarra, Navarrabiomed Pamplona Spain

16. Secció d'Errors Congènits del Metabolisme ‐IBC, Servei de Bioquímica i Genètica Molecular Hospital Clínic, IDIBAPS, CIBERER Barcelona Spain

17. Department of Neurology and Psychiatry Sapienza University of Rome Rome Italy

18. Department of Experimental Medicine Sapienza University Rome Italy

19. Unit of Paediatric Neurology Hospital Universitario Lucus Augusti Lugo Spain

20. Department of Pediatric Metabolism University Cruces Hospital Barakaldo Spain

21. Pediatric Neurology AZ Delta Roeselare Belgium

Funder

Instituto de Salud Carlos III

Generalitat de Catalunya

Agència de Gestió d’Ajuts Universitaris i de Recerca

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12288

Reference59 articles.

1. Leigh Syndrome

2. Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome

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5. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

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