| Portales-Castillo I, Singal R, Ambrose A, Song JH, Son M, Goo YA, Zhou W, Traum AZ, Coler-Reilly A, Humphreys BD, Civitelli R, Jüppner H, Lundquist AL, Seres P, Allegretti AS, Mercimek-Andrews S, Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L JIMD reports65:341-353 2024 |