Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment

Authors

• Ignacio Portales-Castillo, Washington University School of Medicine in St. Louis
• Rhea Singal, Washington University School of Medicine in St. Louis
• Jong Hee Song, Washington University School of Medicine in St. Louis
• Minsoo Son, Washington University School of Medicine in St. Louis
• Young Ah Goo, Washington University School of Medicine in St. Louis
• Ariella Coler-Reilly, Washington University School of Medicine in St. Louis
• Benjamin D Humphreys, Washington University School of Medicine in St. Louis
• Roberto Civitelli, Washington University School of Medicine in St. Louis
• et al.

Journal

JIMD Reports

Publication Date

9-1-2024

Volume

65

Issue

5

First Page

341

Last Page

353

Document Type

Open Access Publication

DOI

10.1002/jmd2.12442

Rights and Permissions

Portales-Castillo I, Singal R, Ambrose A, et al. Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment. JIMD Reports. 2024;65(5):341-353. doi:10.1002/jmd2.12442 © 2024 The Author(s). JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Recommended Citation

Portales-Castillo, Ignacio; Singal, Rhea; Song, Jong Hee; Son, Minsoo; Goo, Young Ah; Coler-Reilly, Ariella; Humphreys, Benjamin D; Civitelli, Roberto; and et al., "Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment." JIMD Reports. 65, 5. 341 - 353. (2024).
https://digitalcommons.wustl.edu/oa_4/6982

Department

ICTS (Institute of Clinical and Translational Sciences)

Additional Links

Supplemental material is available for this article at publisher site.