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

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Title: Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Authors: Smith WE, Berry SA, Bloom K, Brown C, Burton BK, Demarest OM, Jenkins GP, Malinowski J, McBride KL, Mroczkowski HJ, Scharfe C, Vockley J
Corporate Authors: ACMG Board of Directors
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jan; Vol. 28 (1), pp. 101602.
Publication Type: Published Erratum
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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  Data: Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
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  Data: <searchLink fieldCode="AU" term="%22Smith+WE%22">Smith WE</searchLink><br /><searchLink fieldCode="AU" term="%22Berry+SA%22">Berry SA</searchLink><br /><searchLink fieldCode="AU" term="%22Bloom+K%22">Bloom K</searchLink><br /><searchLink fieldCode="AU" term="%22Brown+C%22">Brown C</searchLink><br /><searchLink fieldCode="AU" term="%22Burton+BK%22">Burton BK</searchLink><br /><searchLink fieldCode="AU" term="%22Demarest+OM%22">Demarest OM</searchLink><br /><searchLink fieldCode="AU" term="%22Jenkins+GP%22">Jenkins GP</searchLink><br /><searchLink fieldCode="AU" term="%22Malinowski+J%22">Malinowski J</searchLink><br /><searchLink fieldCode="AU" term="%22McBride+KL%22">McBride KL</searchLink><br /><searchLink fieldCode="AU" term="%22Mroczkowski+HJ%22">Mroczkowski HJ</searchLink><br /><searchLink fieldCode="AU" term="%22Scharfe+C%22">Scharfe C</searchLink><br /><searchLink fieldCode="AU" term="%22Vockley+J%22">Vockley J</searchLink>
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2026 Jan; Vol. 28 (1), pp. 101602.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE; In Process
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        Value: 10.1016/j.gim.2025.101602
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      – Code: eng
        Text: English
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        StartPage: 101602
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      – TitleFull: Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
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            – D: 01
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              Text: 2026 Jan
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