Title : Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome - Kirchberg_2024_Front.Pediatr_12_1278047 |
Author(s) : Kirchberg I , Lainka E , Gangfuss A , Kuechler A , Baertling F , Schlieben LD , Lenz D , Tschiedel E |
Ref : Front Pediatr , 12 :1278047 , 2024 |
Abstract : |
PubMedSearch : Kirchberg_2024_Front.Pediatr_12_1278047 |
PubMedID: 38445077 |
Gene_locus related to this paper: human-SERAC1 |