Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Wendy E. Smith, Susan A. Berry, Kaitlyn Bloom, Christine Brown, Barbara K. Burton, Olivia M. Demarest, Gabrielle P. Jenkins, Jennifer Malinowski, Kim L. McBride, Henry J. Mroczkowski, Curt Scharfe, Jerry Vockley
Topics & Concepts
Medical geneticsGuidelinePhenylalanine hydroxylaseGenomicsMedicineGeneticsBioinformaticsPhysiologyBiologyPhenylalaninePathologyGenomeGeneAmino acidMetabolism and Genetic DisordersGenomics and Rare DiseasesFolate and B Vitamins Research