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

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.

Affiliation

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 de En | MEDLINE | ID: mdl-33180048

Sujet(s)
Mots clés

ATP synthase deficiency; hemodialysis; hyperammonemia

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Dialyse rénale / Proton-Translocating ATPases / Hyperammoniémie / Mutation Type d'étude: Diagnostic_studies Limites: Female / Humans / Newborn Langue: En Journal: J Pediatr Endocrinol Metab Sujet du journal: ENDOCRINOLOGIA / PEDIATRIA Année: 2021 Type de document: Article Pays d'affiliation: Croatie Pays de publication: Allemagne

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