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Žigman, T.* ; Šikić, K.* ; Petković Ramadža, D.* ; Mayr, J.* ; Wortmann, S.* ; Prokisch, H. ; Ninković, D.* ; Dilber, D.* ; Šarić, D.* ; Rubić, F.* ; Galić, S.* ; Slaviček, J.* ; Belina, D.* ; Fumić, K.* ; Barić, I.*

ATP synthase deficiency due to m.8528T>C mutation - A novel cause of severe neonatal hyperammonemia requiring hemodialysis.

J. Pediatr. Endocrinol. Metab. 34, 389-393 (2021)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Hyperammonemia in a newborn is a serious condition, which requires prompt intervention as it can lead to severe neurological impairment and death if left untreated. The most common causes of hyperammonemia in a newborn are acute liver failure and inherited metabolic disorders. Several mitochondrial disorders have been described as a cause of severe neonatal hyperammonemia. Here we describe a new case of adenosine-triphosphate (ATP) synthase deficiency due to m.8528T>C mutation as a novel cause of severe neonatal hyperammonemia. So far six patients with this mutation have been described but none of them was reported to need hemodialysis in the first days of life. This broadens the so far known differential diagnosis of severe neonatal hyperammonemia requiring hemodialysis.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Atp Synthase Deficiency ; Hemodialysis ; Hyperammonemia; Infantile Cardiomyopathy; Mitochondrial
Sprache englisch
Veröffentlichungsjahr 2021
Prepublished im Jahr 2020
HGF-Berichtsjahr 2020
ISSN (print) / ISBN 0334-018X
e-ISSN 2191-0251
Zeitschrift Journal of Pediatric Endocrinology and Metabolism
Quellenangaben Band: 34, Heft: 3, Seiten: 389-393 Artikelnummer: , Supplement: ,
Verlag de Gruyter
Verlagsort Genthiner Strasse 13, D-10785 Berlin, Germany
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503292-001
Förderungen (Horizon2020) through the E-Rare project GENOMIT
German Federal Ministry of Education and Research (BMBF)
DOI 10.1515/jpem-2020-0396
WOS ID WOS:000626416000014
Scopus ID 85096471438
PubMed ID 33180048
Erfassungsdatum 2020-11-30
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