Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency
ABSTRACT Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine synthesis disorder caused by biallelic pathogenic variants in GAMT. Early diagnosis and treatment can lead to normal neurocognitive outcomes, which has prompted its recent addition to the Recommended Uniform Screening Panel....
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-05-01
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| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.70019 |
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