Neonatal carbamoyl phosphate synthetase I deficiency with severe hyperammonemic coma: the first report from Palestine

Abstract Background Carbamoyl phosphate synthetase I deficiency (CPS1D) is the most proximal and severe urea cycle disorder, often presenting in the neonatal period with rapidly progressive hyperammonemia. Early symptoms are often nonspecific, posing significant diagnostic challenges and contributin...

Descripció completa

Dades bibliogràfiques

Autors principals:	Anas K. Assi, Amro Odeh, Habeeb H. Awwad, Hanin Kassem, Imad Dweikat
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2026-03-01
Col·lecció:	BMC Pediatrics
Matèries:	Carbamoyl phosphate synthetase I deficiency Urea cycle disorder Neonatal hyperammonemia Encephalopathy Whole-exome sequencing
Accés en línia:	https://doi.org/10.1186/s12887-026-06793-8
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!