Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment.
由于杂合子 P341L GATM 变异导致常染色体显性范可尼综合征患者血浆中胍基乙酸减少，以及类器官治疗的研究
期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.12442
Portales-Castillo Ignacio, Singal Rhea, Ambrose Anastasia, Song Jong Hee, Son Minsoo, Goo Young Ah, Zhou Wen, Traum Avram Z, Coler-Reilly Ariella, Humphreys Benjamin D, Civitelli Roberto, Jüppner Harald, Lundquist Andrew L, Seres Peter, Allegretti Andrew S, Mercimek-Andrews Saadet
