START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients (Q82658512)

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17 January 2020

title

START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients (English)

1 reference

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sapropterin dihydrochloride

17 January 2020

main subject

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ChEBI release 2020-05-28

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ChEBI release 2020-05-28

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Jeanine R Jarnes Utz

1

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17 January 2020

Cindy Pham Lorentz

2

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17 January 2020

Dorothy Markowitz

3

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17 January 2020

Kyle D Rudser

4

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17 January 2020

Brenda Diethelm-Okita

5

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17 January 2020

David Erickson

6

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17 January 2020

Chester B Whitley

7

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17 January 2020

publication date

29 October 2011

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Molecular Genetics and Metabolism

17 January 2020

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22112818%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

105

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17 January 2020

issue

2

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17 January 2020

page(s)

193-197

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

17 January 2020

cites work

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The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study.

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Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis

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Tetrahydrobiopterin in biomedical research

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

7 January 2021

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Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

7 January 2021

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Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.

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Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria

7 January 2021

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A comparison of kinetic and regulatory properties of the tetrameric and dimeric forms of wild-type and Thr427-->Pro mutant human phenylalanine hydroxylase: contribution of the flexible hinge region Asp425-Gln429 to the tetramerization and cooperativ

7 January 2021

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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

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

7 January 2021

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

7 January 2021

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Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria

7 January 2021

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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

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Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study

7 January 2021

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Biopterin responsive phenylalanine hydroxylase deficiency

7 January 2021

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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

7 January 2021

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Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

7 January 2021

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Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

7 January 2021

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Modifier genes convert "simple" Mendelian disorders to complex traits

7 January 2021

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Consequences of complexity within biological networks: robustness and health, or vulnerability and disease

7 January 2021

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Tetrahydrobiopterin and PKU: into the future.

7 January 2021

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10.1016/J.YMGME.2011.10.014

7 January 2021

Identifiers

DOI

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17 January 2020

1 reference