Relation between granulocyte phenylalanine content and degree of neuropsychiatric disability in phenylketonuria. [PDF]
Tony Andrews+3 more
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Book Review: Phenylketonuria and Some other Inborn Errors of Amino Acid Metabolism [PDF]
D. N. Raine
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Objectives: Phenylketonuria is a hereditary condition caused by the deficiency of the enzyme phenylalanine hydroxylase, leading to abnormal phenylalanine metabolism.
Akram Ehsasat Vatan, M.D.+3 more
doaj
AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria
Daelyn Y Richards+6 more
semanticscholar +1 more source
Detection of Hepatic Phenylalanine 4-Hydroxylase in Classical Phenylketonuria
Paul A. Friedman+3 more
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CIRCADIAN PLASMA GH CONCENTRATIONS IN CHILDREN WITH PHENYLKETONURIA (PKU), HYPERPHENYLALANINEMIA (H), CYSTINOSIS (C) AND HOMOCYSTINURIA (HU) [PDF]
H Schedewie+3 more
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GT to AT transition at a splice donor site causes skipping of the preceding exon in Phenylketonuria [PDF]
Joshua Marvit+5 more
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Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria
S. Garbade+7 more
semanticscholar +1 more source
Nutritional management of the female with phenylketonuria during pregnancy
SM Pueschel, Cindy Hum, Mary Andrews
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