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Orphanet Journal of Rare Diseases|August 31, 2018
Can untreated PKU patients escape from intellectual disability? A systematic reviewDanique van Vliet, Annemiek M J van Wegberg, Kirsten Ahring, et al.
Life (Basel, Switzerland)|November 11, 2022
Three-Country Snapshot of Ornithine Transcarbamylase DeficiencyBerna Seker Yilmaz, Julien Baruteau, Nur Arslan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2025
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathyAnneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, et al.
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