(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

cites work

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Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997.

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7 January 2021

Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test

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7 January 2021

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

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7 January 2021

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

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7 January 2021

Successful treatment of phenylketonuria with tetrahydrobiopterin

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7 January 2021

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype

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7 January 2021

Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.

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7 January 2021

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

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7 January 2021

Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings

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7 January 2021

Treatable neurotransmitter deficiency in mild phenylketonuria

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7 January 2021

Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia.

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7 January 2021

High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002.

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7 January 2021

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7 January 2021

A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria

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7 January 2021

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

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7 January 2021

Modulation by pterins of the phosphorylation and phenylalanine activation of phenylalanine 4-mono-oxygenase

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7 January 2021

Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients

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7 January 2021

RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families

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7 January 2021

Mental illness in mild PKU responds to biopterin

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7 January 2021

Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia

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7 January 2021

10.1016/S1096-7192(02)00229-9

Identifiers

DOI

1 reference

6 August 2017

1 reference