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11 p, 7.3 MB Pathological Features in Paediatric Patients with TK2 Deficiency / Jou, Cristina (Biomedical Center for Research in Rare Diseases CIBERER-ISCIII) ; Nascimento, Andres (Biomedical Center for Research in Rare Diseases CIBERER-ISCIII) ; Codina, Anna (Hospital Sant Joan de Déu (Manresa)) ; Montoya, Julio (Universidad de Zaragoza) ; López-Gallardo, Ester (Universidad de Zaragoza) ; Emperador, Sonia (Universidad de Zaragoza) ; Ruiz-Pesini, Eduardo (Universidad de Zaragoza) ; Montero, Raquel (Hospital Sant Joan de Déu (Manresa)) ; Natera-de Benito, Daniel (Hospital Sant Joan de Déu (Manresa)) ; Ortez González, Carlos Ignacio (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Marquez, Jesus (Hospital Sant Joan de Déu (Manresa)) ; Zelaya, Maria Victoria (Instituto de Investigación Sanitaria de Navarra) ; Gutierrez-Mata, Alfonso (Hospital Nacional Niños "Dr Carlos Sáenz Herrera" (Costa Rica)) ; Badosa, Carmen (Institut de Recerca Sant Joan de Déu) ; Carrera-García, Laura (Institut de Recerca Sant Joan de Déu) ; Expósito-Escudero, Jesica (Institut de Recerca Sant Joan de Déu) ; Roldan Molina, Mònica (Hospital Sant Joan de Déu (Manresa)) ; Cámara, Yolanda (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martí, Ramon A (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ferrer, Isidro (Universitat de Barcelona. Departament de Genètica, Microbiologia i Estadística) ; Jiménez Mallebrera, Cecilia (Universitat de Barcelona. Departament de Genètica, Microbiologia i Estadística) ; Artuch, R (Biomedical Center for Research in Rare Diseases CIBERER-ISCIII, 28029 Madrid, Spain) ; Universitat Autònoma de Barcelona
Thymidine kinase (TK2) deficiency causes mitochondrial DNA depletion syndrome. We aimed to report the clinical, biochemical, genetic, histopathological, and ultrastructural features of a cohort of paediatric patients with TK2 deficiency. [...]
2022 - 10.3390/ijms231911002
International journal of molecular sciences, Vol. 23 (september 2022)  
Detailed record - Creative Commons

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