Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report.
glycerol phenylbutyrate
hyperammonemia
inborn errors metabolism
ornithine transacarbamylase deficiency
urea cycle disorders
Journal
Frontiers in nutrition
ISSN: 2296-861X
Titre abrégé: Front Nutr
Pays: Switzerland
ID NLM: 101642264
Informations de publication
Date de publication:
2024
2024
Historique:
received:
12
04
2024
accepted:
16
09
2024
medline:
15
10
2024
pubmed:
15
10
2024
entrez:
15
10
2024
Statut:
epublish
Résumé
Ornithine transcarbamylase deficiency (OTCD) is the most common disorder of the urea cycle and is caused by a mutation of the
Identifiants
pubmed: 39403401
doi: 10.3389/fnut.2024.1416466
pmc: PMC11471526
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Pagination
1416466Informations de copyright
Copyright © 2024 Martín-Rivada, Murray Hurtado and Martín-Hernández.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The handling editor CP-G declared a past collaboration with the authors ÁM-R and EM-H.