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ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis.
Zigman, Tamara; Sikic, Katarina; Petkovic Ramadza, Danijela; Mayr, Johannes; Wortmann, Saskia; Prokisch, Holger; Ninkovic, Dorotea; Dilber, Daniel; Saric, Dalibor; Rubic, Filip; Galic, Slobodan; Slavicek, Jasna; Belina, Drazen; Fumic, Ksenija; Baric, Ivo.
Afiliación
  • Zigman T; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
  • Sikic K; School of Medicine, University of Zagreb, Zagreb, Croatia.
  • Petkovic Ramadza D; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
  • Mayr J; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
  • Wortmann S; School of Medicine, University of Zagreb, Zagreb, Croatia.
  • Prokisch H; University Children's Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria.
  • Ninkovic D; University Children's Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria.
  • Dilber D; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.
  • Saric D; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.
  • Rubic F; Institut of Neurogenomics, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Neuherberg, Germany.
  • Galic S; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
  • Slavicek J; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
  • Belina D; School of Medicine, University of Zagreb, Zagreb, Croatia.
  • Fumic K; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
  • Baric I; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
J Pediatr Endocrinol Metab ; 34(3): 389-393, 2021 Mar 26.
Article en En | MEDLINE | ID: mdl-33180048
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diálisis Renal / ATPasas de Translocación de Protón / Hiperamonemia / Mutación Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Newborn Idioma: En Revista: J Pediatr Endocrinol Metab Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2021 Tipo del documento: Article País de afiliación: Croacia Pais de publicación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diálisis Renal / ATPasas de Translocación de Protón / Hiperamonemia / Mutación Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Newborn Idioma: En Revista: J Pediatr Endocrinol Metab Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2021 Tipo del documento: Article País de afiliación: Croacia Pais de publicación: Alemania