Neuroimaging Features of Biotinidase Deficiency
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Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
NEJM 391:1256-1258, Laugwitz,L.,et al, 2024
Newborn Screening for Fragile X Syndrome
JAMA Neurol 71:355-359, Tassone, F., 2014