Pregled bibliografske jedinice broj: 1212140
TP synthase deficiency due to m.8528T>C mutation – a novel cause of severe neonatal hyperammonemia requiring hemodialysis
TP synthase deficiency due to m.8528T>C mutation – a novel cause of severe neonatal hyperammonemia requiring hemodialysis // Journal of pediatric endocrinology & metabolism, 34 (2020), 3; 389-393 doi:10.1515/jpem-2020-0396 (međunarodna recenzija, članak, znanstveni)
CROSBI ID: 1212140 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
TP synthase deficiency due to m.8528T>C mutation – a novel cause of severe neonatal hyperammonemia requiring hemodialysis
(ATP synthase deficiency due to m.8528T>C mutation – a novel cause of severe neonatal hyperammonemia requiring hemodialysis)
Autori
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
Izvornik
Journal of pediatric endocrinology & metabolism (0334-018X) 34
(2020), 3;
389-393
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
ATP synthase deficiency ; hemodialysis ; hyperammonemia
Sažetak
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.
Izvorni jezik
Engleski
POVEZANOST RADA
Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb
Profili:
Tamara Žigman
(autor)
Jasna Slaviček
(autor)
Daniel Dilber
(autor)
Ivo Barić
(autor)
Danijela Petković-Ramadža
(autor)
Dražen Belina
(autor)
Slobodan Galić
(autor)
Ksenija Fumić
(autor)
Daliborka Sarić
(autor)
Dorotea Ninković
(autor)
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE