N-acetylglutamate synthetase deficiency - literature review

N-acetylglutamate synthetase deficiency - literature review

Introduction and Objective: N-Acetylglutamate Synthetase Deficiency (NAGSD) is a rare urea cycle disorder, primarily caused by autosomal recessive genetic mutations. Most affected individuals are homozygous for the disease-causing allele. The aim of this publication is to discuss various aspects of...

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Bibliographic Details
Main Authors: Krystian Wdowiak, Agnieszka Maciocha, Julia Wąż, Aleksandra Witas, Justyna Drogoń, Weronika Chachaj, Natalia Szymkowiak, Ewa Gardocka
Format: Article
Language:English
Published: Kazimierz Wielki University 2025-01-01
Series:Journal of Education, Health and Sport
Subjects:
N-acetylglutamate synthetase
NAGS deficiency
N-acetylglutamate synthetase deficiency
Online Access:https://apcz.umk.pl/JEHS/article/view/56888
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