Prevalence of ddc variants and genotypes in patients with l-aromatic amino acid decarboxylase (aadc) deficiency
Nastassja Himmelreich,Mariarita Bertoldi,Giovanni Bisello,Yair Anikster,Bruria Ben Zeev,Yin-Hsiu Chien,Wuh-Liang Hwu,Manju Kurian,Robert Spaull,Phillip L. Pearl,Belen Perez,Roser Pons,Beat Thony, Oya Kuseyri Huebschmann,Kathrin Jeltsch,Thomas Opladen,Nenad Blau MOLECULAR GENETICS AND METABOLISM（2023）
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