Search Results - "Whitehall, Kaleigh B"
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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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