Your browser doesn't support javascript.
loading
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Muñoz-Pujol, Gerard; Ortigoza-Escobar, Juan D; Paredes-Fuentes, Abraham J; Jou, Cristina; Ugarteburu, Olatz; Gort, Laura; Yubero, Delia; García-Cazorla, Angels; O'Callaghan, Mar; Campistol, Jaume; Muchart, Jordi; Yépez, Vicente A; Gusic, Mirjana; Gagneur, Julien; Prokisch, Holger; Artuch, Rafael; Ribes, Antonia; Urreizti, Roser; Tort, Frederic.
Afiliação
  • Muñoz-Pujol G; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain.
  • Ortigoza-Escobar JD; Pediatric Neurology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
  • Paredes-Fuentes AJ; 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.
  • Jou C; Pathology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, University of Barcelona, CIBERER, Esplugues de Llobregat, Barcelona, Spain.
  • Ugarteburu O; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain.
  • Gort L; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain.
  • Yubero D; 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.
  • García-Cazorla A; Pediatric Neurology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
  • O'Callaghan M; Pediatric Neurology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
  • Campistol J; Pediatric Neurology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
  • Muchart J; Pediatric Radiology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
  • Yépez VA; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Gusic M; Department of Informatics, Technical University of Munich, Garching, Germany.
  • Gagneur J; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Prokisch H; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Artuch R; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Ribes A; Department of Informatics, Technical University of Munich, Garching, Germany.
  • Urreizti R; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Tort F; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
Brain Pathol ; 33(3): e13134, 2023 05.
Article em En | MEDLINE | ID: mdl-36450274
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Leigh / Proteínas de Arabidopsis Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Leigh / Proteínas de Arabidopsis Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article