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Pediatrics|July 21, 2026
Newborn Screening for Urea Cycle Disorders and Clinical OutcomesSvenja Scharre, Jürgen G Okun, Florian Gleich, et al.Journal of Neurology, Neurosurgery, and Psychiatry|December 2, 2023
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesisSafoora B Syeda, Museer A Lone, Payam Mohassel, et al.Pageof 5