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.

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Title: 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.
Authors: Burgard P; Heidelberg University, Medical Faculty, and Heidelberg University Hospital, Centre for Paediatric and Adolescent Medicine, Heidelberg, Germany. Electronic address: peter.burgard@t-online.de., Ballhausen D; Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Hennermann JB; Centre for Paediatric and Adolescent Medicine, Johannes Gutenberg-Universität Mainz, Villa, Metabolica, Mainz, Germany., Hoffmann GF; Heidelberg University, Medical Faculty, and Heidelberg University Hospital, Centre for Paediatric and Adolescent Medicine, Heidelberg, Germany., Kölker S; Heidelberg University, Medical Faculty, and Heidelberg University Hospital, Centre for Paediatric and Adolescent Medicine, Heidelberg, Germany., Konstantopoulou V; Department of Pediatrics and Adolescent Medicine, Austrian Newborn Screening, Medical University of Vienna, Vienna, Austria., Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom., Maier EM; Labor Becker MVZ eGbR, Newborn Screening, D-81737 Munich, Germany., Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom., Ullrich K; University Center for Rare Diseases, International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Ziagaki A; Department of Endocrinology and Metabolism, Charité University Medicine Berlin, Berlin, Germany., Zschocke J; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Lindner M; University Children's Hospital, Frankfurt am Main, Germany.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jan; Vol. 28 (1), pp. 101600.
Publication Type: Letter
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; In Process
Database: MEDLINE Ultimate
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ISSN:1530-0366
DOI:10.1016/j.gim.2025.101600