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Medicine

Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

W. E. Smith, Susan A Berry, Kaitlyn Bloom, Christine Brown, Barbara K Burton, Olivia M Demarest, Gabrielle P. Jenkins, Jennifer Malinowski, Kim L McBride, H. J. Mroczkowski, Curt Scharfe, Jerry Vockley

2026.1.1GENETICS IN MEDICINE

DOI: 10.1016/j.gim.2025.101602

Abstract

Abstract is not available.

Citation format

SMITH, W. E., et al. 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, 2026, 28 1(1): 101602.