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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: son m. 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.
1,727 results