Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005