Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art. (Q35078401)

6 August 2017

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title

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art. (English)

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6 August 2017

Leo J M Spaapen

1

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6 August 2017

M Estela Rubio-Gozalbo

series ordinal

2

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6 August 2017

language of work or name

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1 February 2003

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Molecular Genetics and Metabolism

6 August 2017

published in

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6 August 2017

volume

78

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6 August 2017

issue

2

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6 August 2017

page(s)

93-99

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A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

6 August 2017

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Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

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Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype

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Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: possible regulation of gene expression in a patient with the homozygous L48S mutation

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Treatable neurotransmitter deficiency in mild phenylketonuria

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Role of C6 chirality of tetrahydropterin cofactor in catalysis and regulation of tyrosine and phenylalanine hydroxylases

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7 January 2021

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Identifiers

DOI

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6 August 2017

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