Phenylketonuria (PKU): A problem solved?
Author:
Funder
BioMarin Pharmaceutical Inc.
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference17 articles.
1. For the American College of Medical Genetics and Genomics Therapeutic Committee, phenylalanine hydroxylase deficiency: diagnosis and management guideline;Vockley;Genet. Med.,2014
2. Management of phenylketonuria for optimal outcome: a review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors;Wappner;Pediatrics,1999
3. Recommendations for the nutrition management of phenylalanine hydroxylase deficiency;Singh;Genet. Med.,2014
4. Long-term safety and efficacy of sapropterin: the PKUDOS registry experience;Longo;Mol. Genet. Metab.,2015
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2. Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico;Molecular Genetics and Metabolism Reports;2024-03
3. Unveiling the Genetic Tapestry: Rare Disease Genomics of Spinal Muscular Atrophy and Phenylketonuria Proteins;2023-11-28
4. Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial;Nature Metabolism;2023-09-28
5. Health-related quality of life in a european sample of adults with early-treated classical PKU;Orphanet Journal of Rare Diseases;2023-09-22
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