(Q37390118)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19208488%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

review article

1 reference

title

Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria (English)

1 reference

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21 January 2020

1 reference

1 reference

1

1 reference

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21 January 2020

author name string

Amaya Bélanger-Quintana

2

1 reference

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21 January 2020

Mübeccel Demirkol

3

1 reference

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21 January 2020

François Feillet

4

1 reference

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21 January 2020

Marcello Giovannini

5

1 reference

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21 January 2020

Anita MacDonald

6

1 reference

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21 January 2020

Friedrich K Trefz

7

1 reference

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21 January 2020

Francjan J van Spronsen

8

1 reference

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21 January 2020

publication date

8 February 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19208488%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

21 January 2020

published in

1 reference

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21 January 2020

volume

96

1 reference

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21 January 2020

issue

4

1 reference

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21 January 2020

page(s)

158-163

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19208488%20AND%20SRC:MED&resulttype=core&format=json

Enzymology of the phenylalanine-hydroxylating system.

21 January 2020

cites work

1 reference

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The PAH gene, phenylketonuria, and a paradigm shift

7 January 2021

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Management of phenylketonuria and hyperphenylalaninemia

7 January 2021

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Phenylketonuria mutations in Europe

7 January 2021

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

7 January 2021

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Twenty-five years of research on neurocognitive outcomes in early-treated phenylketonuria: intelligence and executive function

7 January 2021

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Behaviour and school achievement in patients with early and continuously treated phenylketonuria.

7 January 2021

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Prefrontal cortex cognitive deficits in children treated early and continuously for PKU.

7 January 2021

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Diet in phenylketonuria: how long? Policies under discussion.

7 January 2021

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Psychiatric disorders in adult patients with early-treated phenylketonuria.

7 January 2021

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Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria

7 January 2021

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School performance in early and continuously treated phenylketonuria.

7 January 2021

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Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU.

7 January 2021

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Diet and compliance in phenylketonuria

7 January 2021

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Phenylketonuria: dietary and therapeutic challenges

7 January 2021

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Administration of protein substitute and quality of control in phenylketonuria: a randomized study

7 January 2021

1 reference

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A new, low-volume protein substitute for teenagers and adults with phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

'Ready to drink' protein substitute is easier is for people with phenylketonuria.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

Defining tetrahydrobiopterin (BH4)-responsiveness in PKU.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

Pharmacokinetics of sapropterin in patients with phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

Phenylalanine-restricted diet should be life long. A case report on long-term follow-up of an adolescent with untreated phenylketonuria.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.002

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2009.01.002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19208488%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference