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The symptoms are visible within the first week of life and if not detected and diagnosed correctly immediately consequences are fatal. N-Acetylglutamate synthase deficiency has an autosomal recessive ...

N-acetylglutamate synthetase deficiency; OTC, ornithine transcarbamylase deficiency; PCD, pyruvate carboxylase deficiency; PA, propionic acidemia; THAN, transient hyperammonemia of the newborn ...

Hyperammonemia is a metabolic condition characterized by increased levels of ammonia, a nitrogen-containing compound. This is due to N-acetylglutamate synthase deficiency. This may lead to brain ...

Autism spectrum disorder (ASD) is a multifactorial neurodevelopmental disorder, which is characterized by deficits in social interactions, communication, and by the presence of restrictive and ...

Objective: To evaluate the causal relationship between lipids and ulcerative colitis (UC) through Mendelian Randomization (MR), and to further investigate the involvement of immune cells in mediating ...

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