A Turkish patient with novel AHCY variants and presumed diagnosis of S-adenosylhomocysteine hydrolase deficiency.
Bas H, Cilingir O, Tekin N, Saylisoy S, Durak Aras B, Uzay E, Erzurumluoglu Gokalp E, Artan S. Am J Med Genet A. 2020 Apr; 182(4):740-745. Epub 2020 Jan 20.