{"id":5438,"date":"2025-10-09T12:24:13","date_gmt":"2025-10-09T12:24:13","guid":{"rendered":"https:\/\/medical.biomarin.com\/en-us\/?page_id=5438"},"modified":"2026-03-04T18:33:18","modified_gmt":"2026-03-04T18:33:18","slug":"phenylketonuria-publications","status":"publish","type":"page","link":"https:\/\/medical.biomarin.com\/en-us\/phenylketonuria-pku\/phenylketonuria-publications\/","title":{"rendered":"Phenylketonuria (PKU) Publications"},"content":{"rendered":"<div id=\"acf-block-68710d6459d61\" class=\"hero hero-no-overlay hero-large-first-para\">\n            <div class=\"hero-background-image hero-background-image-desktop\" style=\"background-image: url(https:\/\/medical.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2025\/10\/Program-banner-DNA.png?v=1.20);\"><\/div>\n\t    <div class=\"hero-background-image hero-background-image-mobile\" style=\"background-image: url(https:\/\/medical.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2025\/10\/Program-banner-DNA-Mobile.png?v=1.20);\"><\/div>\n    \t<div class=\"overlay\"><\/div>\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"hero-content\">\n\t\t\t    \t\t\t        <ul class=\"breadcrumb\">\n\t\t\t            \t\t\t                                                                        <li><a href=\"https:\/\/medical.biomarin.com\/en-us\/phenylketonuria-pku\/\">Phenylketonuria (PKU)<\/a><\/li>\n                            \t\t\t                                                                        <li>Phenylketonuria (PKU) Publications<\/li>\n                            \t\t\t            \t\t\t        <\/ul>\n\t\t\t    \t\t\t\t\t\t\t\t\t\t\t\t    <h1>Publications\n<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t    <p>Learn more about phenylketonuria and BioMarin therapies<\/p>\n\t\t\t\t\t\t\t\t\n                <p class=\"inline-buttons\">\n                                                        <\/p>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n<div id=\"acf-block-68cbe6561f6c8\" class=\"block wrapped-content bg-band bg-band-primary block-zero-top block-zero-bottom block-remove-top-padding block-remove-bottom-padding\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-68cbe6561f825\" class=\"block-wysiwyg\">\n            <h3 style=\"margin-top: 1rem\">Featured Publications:<\/h3>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-68c997f24072a\" class=\"block cards cards-carousel block-tight-top\" data-muted-autoplay=\"false\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                                                <div class=\"owl-carousel cards-carousel-slides\">\n                                                                                                                                                                                                                                                                                                                                                                                                                    \n                                \n                                <div class=\"carousel-slide\">\n                                    <div class=\"card card-fixed-button\">\n                                                                                <div class=\"card-content\">\n                                                                                                                                        <h4>Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approach\n<\/h4>\n                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                    \n                                                                                                                                                                            <\/div>\n                                                            <div class=\"card-actions\">\n                                                        \n                                                        <p><a class=\"button button-arrow\" href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S109671922600051X\" target=\"_blank\">Read publication<\/a><\/p>\n                                                                                                                                                                                        <\/div>\n                                    <\/div>\n                                <\/div>\n                                                                                                                                                                                                                                                                                                                                                                                            \n                                \n                                <div class=\"carousel-slide\">\n                                    <div class=\"card card-fixed-button\">\n                                                                                <div class=\"card-content\">\n                                                                                                                                        <h4>Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)\n<\/h4>\n                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                    \n                                                                                                                                                                            <\/div>\n                                                            <div class=\"card-actions\">\n                                                        \n                                                        <p><a class=\"button button-external\" href=\"https:\/\/www.gimjournal.org\/article\/S1098-3600(24)00223-5\/fulltext\" target=\"_blank\">Read guidelines<\/a><\/p>\n                                                                                                                                                                                        <\/div>\n                                    <\/div>\n                                <\/div>\n                                                                                                                                                                                                                                                                                                                                                                                            \n                                \n                                <div class=\"carousel-slide\">\n                                    <div class=\"card card-fixed-button\">\n                                                                                <div class=\"card-content\">\n                                                                                                                                        <h4>European guidelines on diagnosis and treatment of phenylketonuria: First revision\n<\/h4>\n                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                    \n                                                                                                                                                                            <\/div>\n                                                            <div class=\"card-actions\">\n                                                        \n                                                        <p><a class=\"button button-external\" href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1096719225001167\" target=\"_blank\">Read guidelines<\/a><\/p>\n                                                                                                                                                                                        <\/div>\n                                    <\/div>\n                                <\/div>\n                                                                                                                                                                                                                                                                                                                                                                                            \n                                \n                                <div class=\"carousel-slide\">\n                                    <div class=\"card card-fixed-button\">\n                                                                                <div class=\"card-content\">\n                                                                                                                                        <h4>Long-term management strategies for pegvaliase use in phenylketonuria: Lessons learned from the phase-3 PRISM open-label extension study\n<\/h4>\n                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                    \n                                                                                                                                                                            <\/div>\n                                                            <div class=\"card-actions\">\n                                                        \n                                                        <p><a class=\"button button-external\" href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1098360025001066\" target=\"_blank\">Read publication<\/a><\/p>\n                                                                                                                                                                                        <\/div>\n                                    <\/div>\n                                <\/div>\n                                                                        <\/div>\n                \t\t\t        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-68d55f2dd93bc\" class=\"block wrapped-content bg-band block-tight-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-68d55f2dd9518\" class=\"block-wysiwyg\">\n            <h3>Phenylketonuria Publications List:<\/h3>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-68d0f9bc3a9c4\" class=\"block resources-listing\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\n            \t\t\t                                    \n                    \n                                                                                                                                                                                                                                                \n                                                                                        \n                                        <article class=\"resource resource-article\">\n                                                    <p class=\"resource-type\">Publication<\/p>\n                                                <div class=\"resource-split-layout\">\n                            <div class=\"resource-image-block\">\n                                <div class=\"resource-image\">\n                                                                            <div class=\"resource-feature-image\" style=\"background-image: url(https:\/\/medical.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2024\/07\/Publications-1024x576.png);\"><\/div>\n                                                                    <\/div>\n                                                                                                                                                                                                                                                                <p><a class=\"button\" href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S109671922600051X\" target=\"_blank\">Read publication<\/a><\/p>\n                                                                                            <\/div>\n                            <div class=\"resource-information\">\n                                                                    <div class=\"resource-meta\">\n                                                                                    <ul class=\"tags\">\n                                                                                                    <li>Publications<\/li>\n                                                                                                    <li>Phenylketonuria (PKU)<\/li>\n                                                                                                    <li>Safety Profile and Efficacy<\/li>\n                                                                                            <\/ul>\n                                                                                                                    <\/div>\n                                                                                                                                    <h2>Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approach\n<\/h2>\n                                                                                                <div class=\"resource-links\">\n                                                                                                                                                                                                                                                                                            <p><a class=\"button\" href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S109671922600051X\" target=\"_blank\">Read publication<\/a><\/p>\n                                                                    <\/div>\n                                                            <\/div>\n                        <\/div>\n                    <\/article>\n                                    \n                    \n                                                                                                                                                                                                                                                \n                                                                                        \n                                        <article class=\"resource resource-article\">\n                                                    <p class=\"resource-type\">Publication<\/p>\n                                                <div class=\"resource-split-layout\">\n                            <div class=\"resource-image-block\">\n                                <div class=\"resource-image\">\n                                                                            <div class=\"resource-feature-image\" style=\"background-image: url(https:\/\/medical.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2024\/07\/Publications-1024x576.png);\"><\/div>\n                                                                    <\/div>\n                                                                                                                                                                                                                                                                <p><a class=\"button\" href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1096719225001167\" target=\"_blank\">View content<\/a><\/p>\n                                                                                            <\/div>\n                            <div class=\"resource-information\">\n                                                                    <div class=\"resource-meta\">\n                                                                                    <ul class=\"tags\">\n                                                                                                    <li>Publications<\/li>\n                                                                                                    <li>Phenylketonuria (PKU)<\/li>\n                                                                                                    <li>Burden of Disease<\/li>\n                                                                                            <\/ul>\n                                                                                                                    <\/div>\n                                                                                                                                    <h2>European guidelines on diagnosis and treatment of phenylketonuria: First revision\n<\/h2>\n                                                                                                <div class=\"resource-links\">\n                                                                                                                                                                                                                                                                                            <p><a class=\"button\" href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1096719225001167\" target=\"_blank\">View content<\/a><\/p>\n                                                                    <\/div>\n                                                            <\/div>\n                        <\/div>\n                    <\/article>\n                                    \n                    \n                                                                                                                                                                                                                                                \n                                                                                        \n                                        <article class=\"resource resource-article\">\n                                                    <p class=\"resource-type\">Publication<\/p>\n                                                <div class=\"resource-split-layout\">\n                            <div class=\"resource-image-block\">\n                                <div class=\"resource-image\">\n                                                                            <div class=\"resource-feature-image\" style=\"background-image: url(https:\/\/medical.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2024\/07\/Publications-1024x576.png);\"><\/div>\n                                                                    <\/div>\n                                                                                                                                                                                                                                                                <p><a class=\"button\" href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1098360025001066\" target=\"_blank\">View content<\/a><\/p>\n                                                                                            <\/div>\n                            <div class=\"resource-information\">\n                                                                    <div class=\"resource-meta\">\n                                                                                    <ul class=\"tags\">\n                                                                                                    <li>Publications<\/li>\n                                                                                                    <li>Phenylketonuria (PKU)<\/li>\n                                                                                                    <li>Safety Profile and Efficacy<\/li>\n                                                                                            <\/ul>\n                                                                                                                    <\/div>\n                                                                                                                                    <h2>Long-term management strategies for pegvaliase use in phenylketonuria: Lessons learned from the phase-3 PRISM open-label extension study\n<\/h2>\n                                                                                                <div class=\"resource-links\">\n                                                                                                                                                                                                                                                                                            <p><a class=\"button\" href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1098360025001066\" target=\"_blank\">View content<\/a><\/p>\n                                                                    <\/div>\n                                                            <\/div>\n                        <\/div>\n                    <\/article>\n                                    \n                    \n                                                                                                                                                                                                                                                \n                                                                                        \n                                        <article class=\"resource resource-article\">\n                                                    <p class=\"resource-type\">Publication<\/p>\n                                                <div class=\"resource-split-layout\">\n                            <div class=\"resource-image-block\">\n                                <div class=\"resource-image\">\n                                                                            <div class=\"resource-feature-image\" style=\"background-image: url(https:\/\/medical.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2024\/07\/Publications-1024x576.png);\"><\/div>\n                                                                    <\/div>\n                                                                                                                                                                                                                                                                <p><a class=\"button\" href=\"https:\/\/www.gimjournal.org\/article\/S1098-3600(24)00223-5\/fulltext\" target=\"_blank\">View content<\/a><\/p>\n                                                                                            <\/div>\n                            <div class=\"resource-information\">\n                                                                    <div class=\"resource-meta\">\n                                                                                    <ul class=\"tags\">\n                                                                                                    <li>Publications<\/li>\n                                                                                                    <li>Phenylketonuria (PKU)<\/li>\n                                                                                                    <li>American College of Medical Genetics &amp; Genomics (ACMG)<\/li>\n                                                                                                    <li>Burden of Disease<\/li>\n                                                                                            <\/ul>\n                                                                                                                    <\/div>\n                                                                                                                                    <h2>Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)\n<\/h2>\n                                                                                                <div class=\"resource-links\">\n                                                                                                                                                                                                                                                                                            <p><a class=\"button\" href=\"https:\/\/www.gimjournal.org\/article\/S1098-3600(24)00223-5\/fulltext\" target=\"_blank\">View content<\/a><\/p>\n                                                                    <\/div>\n                                                            <\/div>\n                        <\/div>\n                    <\/article>\n                                    \n                    \n                                                                                                                                                                                                                                                \n                                                                                        \n                                        <article class=\"resource resource-article\">\n                                                    <p class=\"resource-type\">Selected Publications<\/p>\n                                                <div class=\"resource-split-layout\">\n                            <div class=\"resource-image-block\">\n                                <div class=\"resource-image\">\n                                                                            <div class=\"resource-feature-image\" style=\"background-image: url(https:\/\/medical.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2024\/07\/Publications-1024x576.png);\"><\/div>\n                                                                    <\/div>\n                                                                                                                                                                                                                                                                                                        <p><a class=\"button modal-pdfjs permitted\" href=\"https:\/\/medical.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2025\/10\/PKU_Selected_Publications_List_SEPT2025.pdf?v=1.20\" target=\"_blank\">View content <\/a><\/p>\n                                                                                            <\/div>\n                            <div class=\"resource-information\">\n                                                                    <div class=\"resource-meta\">\n                                                                                    <ul class=\"tags\">\n                                                                                                    <li>Publications<\/li>\n                                                                                                    <li>Phenylketonuria (PKU)<\/li>\n                                                                                            <\/ul>\n                                                                                                                    <\/div>\n                                                                                                                                    <h2>Access selected publications on the burden of illness of PKU, sapropterin dihydrochloride, and pegvaliase.\n<\/h2>\n                                                                                                <div class=\"resource-links\">\n                                                                                                                                                            \t                                                                                                                                                                        <p><a class=\"button modal-pdfjs permitted\" href=\"https:\/\/medical.biomarin.com\/en-us\/wp-content\/uploads\/sites\/2\/2025\/10\/PKU_Selected_Publications_List_SEPT2025.pdf?v=1.20\" target=\"_blank\">View content <\/a><\/p>\n                                                                    <\/div>\n                                                            <\/div>\n                        <\/div>\n                    <\/article>\n                            \t\t<\/div>\n\t<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":2,"featured_media":0,"parent":4715,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-5438","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Phenylketonuria (PKU) Publications | BioMarin Medical<\/title>\n<meta name=\"description\" content=\"Learn more about phenylketonuria and BioMarin therapies\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" 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