Associated Papers
Comprehensive survey of disease-causing missense mutations of the cholesterol synthesis enzyme NSDHL: Low temperature and a chemical chaperone rescue low protein expression of select mutants.
Fenton NM et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2025
Subtle infantile spasms presenting as hyperirritability in CK syndrome.
Hagiwara S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2022
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