Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations

Abstract Background The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval of pegvaliase pharmacotherapy, offers guidance for nutrition management of individuals with phenylketonuria (PKU) treated with dietary therapy and/or sapropterin. An update of this guideline aim...

وصف كامل

التفاصيل البيبلوغرافية
الحاوية / القاعدة:	Orphanet Journal of Rare Diseases
المؤلفون الرئيسيون:	Amy Cunningham, Fran Rohr, Patricia Splett, Shideh Mofidi, Heather Bausell, Adrya Stembridge, Aileen Kenneson, Rani H. Singh
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	BMC 2023-06-01
الموضوعات:	Phenylketonuria PKU Phenylalanine ammonia lyase Pegvaliase Palynziq® Nutrition guideline
الوصول للمادة أونلاين:	https://doi.org/10.1186/s13023-023-02751-0

مواد مشابهة

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حسب: Reihaneh Baradaran Ghaffari, وآخرون
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