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 Open access

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Authors: Wendy E. Smith, Susan A. Berry, Kaitlyn Bloom, Christine S. H. Brown, Barbara K. Burton, Olivia M. Demarest, Gabrielle P. Jenkins, Jennifer M. Malinowski, McBride Kim, H. Joel Mroczkowski, Curt Scharfe, Jerry E. Vockley
DOI: 10.1016/j.gim.2025.101602
Cited by: 1

Fields of Study & Subjects

Metabolism and Genetic Disorders Genomics and Rare Diseases Folate and B Vitamins Research

Publication details

Journal / source
Genetics in Medicine
Publisher
Elsevier BV
Volume
28
Issue
1
Pages
101602–101602
Publication date
1 January 2026
Language
EN