Article ID Journal Published Year Pages File Type
8344012 Molecular Genetics and Metabolism 2012 6 Pages PDF
Abstract
► 16 of 36 patients represented by 12 of 29 genotypes were proven as BH4 responders. ► A PRA of at least 15.5% was needed for the responder genotype in our population. ► Spontaneous reduction of Phe levels within 24 h was very slight if present.
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Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
Preview
Assessment of tetrahydrobiopterin (BH4)-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population
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