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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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Kazimierz Wielki University
2025-01-01
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| Series: | Journal of Education, Health and Sport |
| Subjects: | |
| Online Access: | https://apcz.umk.pl/JEHS/article/view/56888 |
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