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Titel:

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

Dokumenttyp:
Article; Case Reports
Autor(en):
Žigman, Tamara; Šikić, Katarina; Petković Ramadža, Danijela; Mayr, Johannes; Wortmann, Saskia; Prokisch, Holger; Ninković, Dorotea; Dilber, Daniel; Šarić, Dalibor; Rubić, Filip; Galić, Slobodan; Slaviček, Jasna; Belina, Dražen; Fumić, Ksenija; Barić, Ivo
Abstract:
OBJECTIVES: 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. CASE PRESENTATION: Here we describe a new case of adenosine-triphosphate (ATP) synthase deficiency due to m.8528...     »
Zeitschriftentitel:
J Pediatr Endocrinol Metab
Jahr:
2021
Band / Volume:
34
Heft / Issue:
3
Seitenangaben Beitrag:
389-393
Volltext / DOI:
doi:10.1515/jpem-2020-0396
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33180048
Print-ISSN:
0334-018X
TUM Einrichtung:
Institut für Humangenetik
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