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Affected individuals with more severe defects presenting early in the neonatal period, infancy, or early childhood have a poorer prognosis, especially if diagnosed in a symptomatic child rather than through newborn screening
Volek J, et al
Cuellar International Journal of Molecular Sciences.2025
Dietary supplementation with L-carnosine improves patient-reported outcomes, autonomic nervous system performance, and brain metabolism in 3 adult patients with multiple sclerosis
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