(Q59697131)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16601866%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency (English)

1 reference

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19 January 2020

1 reference

1

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19 January 2020

Flavia Chiarotti

4

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19 January 2020

author name string

C Carducci

2

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19 January 2020

C Carducci

3

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19 January 2020

C Artiola

5

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19 January 2020

T Giovanniello

6

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19 January 2020

I Antonozzi

7

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19 January 2020

publication date

1 February 2006

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Journal of Inherited Metabolic Disease

19 January 2020

published in

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19 January 2020

volume

29

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19 January 2020

issue

1

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19 January 2020

page(s)

38-46

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https://scigraph.springernature.com/pub.10.1007/s10545-006-0096-3

19 January 2020

exact match

0 references

cites work

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

1 reference

12 December 2020

The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

12 December 2020

Does a single plasma phenylalanine predict quality of control in phenylketonuria?

1 reference

12 December 2020

Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients

1 reference

12 December 2020

Domain structure and stability of human phenylalanine hydroxylase inferred from infrared spectroscopy

1 reference

12 December 2020

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe

1 reference

12 December 2020

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

1 reference

12 December 2020

Biopterin responsive phenylalanine hydroxylase deficiency

1 reference

12 December 2020

Rapid and sensitive method for high-performance liquid chromatographic analysis of pterins in biological fluids

1 reference

12 December 2020

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

1 reference

12 December 2020

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration

1 reference

12 December 2020

Simultaneous high-performance liquid chromatographic determination of amino acids in a dried blood spot as a neonatal screening test

1 reference

12 December 2020

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype

1 reference

12 December 2020

Successful treatment of phenylketonuria with tetrahydrobiopterin

1 reference

12 December 2020

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

1 reference

12 December 2020

Mental illness in mild PKU responds to biopterin

1 reference

12 December 2020

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

1 reference

12 December 2020

Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency

1 reference

12 December 2020

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

1 reference

12 December 2020

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

1 reference

12 December 2020

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S10545-006-0096-3

Identifiers

DOI

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19 January 2020

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