Leigh syndrome is the main clinical characteristic of <scp>PTCD3</scp> deficiency-Reference-Cited by-同舟云学术

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

Published:2022-11-30 Issue:3 Volume:33 Page:
ISSN:1015-6305
Container-title:Brain Pathology
language:en
Short-container-title:Brain Pathology

Author:

Muñoz‐Pujol Gerard¹,Ortigoza‐Escobar Juan D.²,Paredes‐Fuentes Abraham J.³^ORCID,Jou Cristina⁴,Ugarteburu Olatz¹,Gort Laura¹,Yubero Delia³,García‐Cazorla Angels²,O'Callaghan Mar²,Campistol Jaume²,Muchart Jordi⁵,Yépez Vicente A.⁶⁷,Gusic Mirjana⁶⁸,Gagneur Julien⁶⁷,Prokisch Holger⁶⁸,Artuch Rafael³,Ribes Antonia¹,Urreizti Roser³,Tort Frederic¹^ORCID

Affiliation:

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

2. Pediatric Neurology Department Hospital Sant Joan de Déu Esplugues de Llobregat Barcelona Spain

3. Clinical Biochemistry and Molecular Medicine and Genetics Departments Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, and CIBERER Esplugues de Llobregat Barcelona Spain

4. Pathology Department, Institut de Recerca Sant Joan de Déu Hospital Sant Joan de Déu, University of Barcelona, CIBERER Esplugues de Llobregat Barcelona Spain

5. Pediatric Radiology Department Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu Esplugues de Llobregat Barcelona Spain

6. School of Medicine Institute of Human Genetics, Technische Universität München Munich Germany

7. Department of Informatics Technical University of Munich Garching Germany

8. Institute of Neurogenomics, Helmholtz Zentrum München Neuherberg Germany

Funder

AGAUR

Generalitat de Catalunya

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Neurology (clinical),Pathology and Forensic Medicine,General Neuroscience