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Phenylalanine hydroxylase deficiency diagnosis and management
A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Smith, W. E., Berry, S. A., Bloom, K., Brown, C., Burton, B. K., Demarest, O. M., Jenkins, G. P., Malinowski, J., McBride, K. L., Mroczkowski, H. J., Scharfe, C., & Vockley, J. (2025). Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, 27(1), Article 101289. https://doi.org/10.1016/j.gim.2024.101289
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