(Q45089579)

9 December 2017

title

Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype (English)

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9 December 2017

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Lourdes R Desviat

1

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9 December 2017

Belén Pérez

2

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9 December 2017

Amaya Bèlanger-Quintana

3

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9 December 2017

Margarita Castro

4

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9 December 2017

Cristina Aguado

5

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9 December 2017

Ascensión Sánchez

6

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9 December 2017

Maria José García

7

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9 December 2017

Mercedes Martínez-Pardo

8

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9 December 2017

Magdalena Ugarte

9

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9 December 2017

publication date

1 September 2004

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Molecular Genetics and Metabolism

9 December 2017

published in

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9 December 2017

volume

83

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9 December 2017

issue

1-2

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9 December 2017

page(s)

157-162

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The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency

9 December 2017

cites work

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Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

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Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

7 January 2021

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

7 January 2021

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

7 January 2021

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Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients

7 January 2021

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A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.06.007

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

7 January 2021

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

7 January 2021

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Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions

7 January 2021

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A rapid procedure for extracting genomic DNA from leukocytes

7 January 2021

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'Broad-range' DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene

7 January 2021

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Measurement of phenylalanine and tyrosine in plasma by high-performance liquid chromatography using the inherent fluorescence of aromatic amino acids.

7 January 2021

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Chromatographic analysis of pteridines

7 January 2021

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In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: correlation with metabolic phenotypes and susceptibility toward protein aggregation

7 January 2021

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Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity

7 January 2021

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In vitro splicing deficiency induced by a C to T mutation at position -3 in the intron 10 acceptor site of the phenylalanine hydroxylase gene in a patient with phenylketonuria

7 January 2021

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Modulation of inducible nitric oxide synthase mRNA stability by tetrahydrobiopterin in vascular smooth muscle cells

7 January 2021

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Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration

7 January 2021

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Biopterin responsive phenylalanine hydroxylase deficiency

7 January 2021

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7 January 2021

Identifiers

DOI

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9 December 2017

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