Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome

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Document type:: Zeitschriftenaufsatz
Author(s):: Kirchberg, Ina ; Lainka, Elke ; Gangfuß, Andrea ; Kuechler, Alma ; Baertling, Fabian ; Schlieben, Lea D. ; Lenz, Dominic ; Tschiedel, Eva
Title:: Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome
Keywords:: Pediatrics ; MEGDHEL syndrome ; SERAC1 ; hyperammonemia ; liver failure ; neurometabolic disorder ; lactic acidosis
Journal title:: Frontiers in Pediatrics
Year:: 2024
Journal volume:: 12
Fulltext / DOI:: doi:10.3389/fped.2024.1278047
Publisher:: Frontiers Media S.A.
E-ISSN:: 2296-2360
Date of publication:: 20.02.2024
CC license:: by, https://creativecommons.org/licenses/by/4.0

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