Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment.
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.
Portales-Castillo I, et al. Among authors: ambrose a.
JIMD Rep. 2024 Aug 19;65(5):341-353. doi: 10.1002/jmd2.12442. eCollection 2024 Sep.
JIMD Rep. 2024.
PMID: 39544690
Free PMC article.