Outcomes in Early-Treated Guanidinoacetate Methyltransferase Deficiency
The favorable outcome observed in patients with GAMT-D when treatment is initiated in the presymptomatic period or early infancy should serve as a compelling argument for those programs that have not already implemented newborn screening of GAMT-D.
Authors
- Andreas Schulze (ORCID: https://orcid.org/0000-0001-8491-1095)
- Robin Z. Hayeems (ORCID: https://orcid.org/0000-0003-3269-8004)
- Liora Caspi
Institutions
- University of Toronto (CA)
- Hospital for Sick Children (CA)
- SickKids Foundation (CA)
- Institute for Clinical Evaluative Sciences (CA)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-05-30
- DOI
- https://doi.org/10.1212/nxg.0000000000200262
- Citations
- 1
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.32