Correspondence on “Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)” by Smith et al

Genetics in Medicine 2026

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Authors: Peter J. Burgard, Diana Ballhausen, Julia B. Hennermann, Georg Friedrich Hoffmann, Stefan Kölker, Vassiliki Konstantopoulou, Robin Lachmann, Esther M. Maier, Elaine Murphy, Kurt Ullrich, Athanasia Ziagaki, Johannes Zschocke
+1 more Martin Lindner
DOI: 10.1016/j.gim.2025.101600
Cited by: 1
References: 14

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
101600–101600
Publication date
1 January 2026
Language
EN