Results 151 to 160 of about 24,432 (224)

Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect. [PDF]

open access: yesMol Genet Metab Rep
Upadia J   +8 more
europepmc   +1 more source

Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants

open access: green, 2008
Aurora Daniele   +9 more
openalex   +2 more sources

Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase. [PDF]

open access: yesGenes (Basel), 2019
Pecimonova M   +8 more
europepmc   +1 more source

Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin. [PDF]

open access: yesProc Natl Acad Sci U S A, 2019
Flydal MI   +7 more
europepmc   +1 more source

Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples

open access: green, 2008
Michael E. Talkowski   +25 more
openalex   +1 more source

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