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Description

ASS deficiency (citrullinemia type 1) Diagnosis is generally straightforward (Figure 2) because of the combination of hyperammonemia and/or elevated plasma glutamine with very high levels of plasma citrulline and increased urinary orotic acid

Along with mitochondria, synapses are considered end effectors of many molecular mechanisms related to ASD, and the convergence of different neurodevelopmental pathological mechanisms on synapses can at least partially explain the behavioral similarities in different individuals on the spectrum