Search Results - "Whitehall, Kaleigh"
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Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria
Published in Orphanet journal of rare diseases (12-08-2024)“…Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism that, if untreated, causes Phe accumulation in the brain leading to neurophysiologic…”
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Meta-analysis of bone mineral density in adults with phenylketonuria
Published in Orphanet journal of rare diseases (12-09-2024)“…Lifelong management of phenylketonuria (PKU) centers on medical nutrition therapy, including dietary phenylalanine (Phe) restriction in addition to Phe-free or…”
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Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis
Published in Molecular genetics and metabolism (01-02-2021)“…Sapropterin dihydrochloride has been approved for the treatment of hyperphenylalaninemia in infants and young children with phenylketonuria (PKU). Sapropterin…”
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Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program
Published in Molecular genetics and metabolism reports (01-06-2024)“…Phenylketonuria (PKU) is a genetic disorder caused by deficiency of the enzyme phenylalanine hydroxylase (PAH), which results in phenylalanine (Phe)…”
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Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
Published in Molecular genetics and metabolism reports (01-09-2021)“…To present a case series that illustrates real-world use of pegvaliase based on the initial experiences of US healthcare providers. Sixteen healthcare…”
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Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data
Published in Molecular genetics and metabolism reports (01-12-2022)“…Phenylketonuria (PKU) is an inborn metabolic error characterized by a deficiency of the enzyme required for the metabolism of phenylalanine, an essential amino…”
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EFFICACY AND SAFETY OF THE RECOMMENDED PEGVALIASE DOSING REGIMEN IN ADULTS WITH PHENYLKETONURIA IN THE PHASE 3 PRISM STUDIES
Published in Molecular genetics and metabolism (01-04-2022)Get full text
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Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data
Published in Molecular genetics and metabolism (01-03-2024)“…Phenylketonuria (PKU), a genetic disorder characterized by phenylalanine hydroxylase (PAH) deficiency and phenylalanine (Phe) accumulation, is primarily…”
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