Results 131 to 140 of about 23,946 (202)

Phenylalanine hydroxylase (PAH) [PDF]

open access: yesScience-Business eXchange, 2008
openaire   +1 more source

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

Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant

open access: yesChinese Medical Journal, 2015
Jun Ye   +4 more
doaj   +1 more source

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

Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish. [PDF]

open access: yesMol Genet Metab Rep, 2018
Schwoerer JS   +4 more
europepmc   +1 more source

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China. [PDF]

open access: yesSci Rep, 2018
Chen T   +9 more
europepmc   +1 more source

Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria. [PDF]

open access: yesMed J Islam Repub Iran, 2018
Rastegar Moghadam M   +4 more
europepmc   +1 more source

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