Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: A novel mutation in exon 3 [PDF]
Cezary Żekanowski+3 more
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Long‐lasting Effect of Maternal Hyperphenylalaninemia during Pregnancy on Postnatal Brain Development of Mice: Biochemical and Morphological Studies [PDF]
Yasushi YAMAWAKI+2 more
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New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride [PDF]
Oral administration of sapropterin hydrochloride, recently approved for use by the US Food and Drug Administration and the European Commission, is a novel approach for the treatment of phenylketonuria (PKU), one of the most common inborn errors of ...
Harding, Cary O
core +2 more sources
Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia [PDF]
Luisa Bonafé+4 more
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Long-Term Treatment and Diagnosis of Tetrahydrobiopterin-Responsive Hyperphenylalaninemia with a Mutant Phenylalanine Hydroxylase Gene [PDF]
Haruo Shintaku+12 more
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Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pahenu2 mice [PDF]
Cary O. Harding+4 more
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Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria [PDF]
Cary O. Harding+6 more
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897. Recombinant AAV2/8 Vector-Mediated Gene Therapy Corrects Hyperphenylalaninemia in Murine PKU [PDF]
Cary O. Harding+4 more
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Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria [PDF]
openalex +1 more source