(Q44957001)

English

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

7 December 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

0 references

phenylketonuria

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

B K Burton

1

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

D K Grange

2

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

A Milanowski

3

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

G Vockley

4

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

F Feillet

5

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

E A Crombez

6

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

V Abadie

7

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

C O Harding

8

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

S Cederbaum

9

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

D Dobbelaere

10

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

A Smith

11

1 reference

Europe PubMed Central

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7 December 2017

A Dorenbaum

12

1 reference

Europe PubMed Central

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7 December 2017

publication date

12 September 2007

1 reference

Europe PubMed Central

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7 December 2017

Journal of Inherited Metabolic Disease

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Europe PubMed Central

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7 December 2017

30

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

700-707

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17846916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/17846916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/17846916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurological aspects of adult phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/17846916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17846916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Blood phenylalanine levels and intelligence of 10-year-old children with PKU in the National Collaborative Study

1 reference

https://pubmed.ncbi.nlm.nih.gov/17846916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17846916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17846916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Revised sections F7.5 (quantitative amino acid analysis) and F7.6 (qualitative amino acid analysis): American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories, 2003

1 reference

https://pubmed.ncbi.nlm.nih.gov/17846916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

How practical are recommendations for dietary control in phenylketonuria?

1 reference

https://pubmed.ncbi.nlm.nih.gov/17846916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/17846916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17846916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Response of patients with phenylketonuria in the US to tetrahydrobiopterin.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17846916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/17846916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unsolved problems in diagnosis and therapy of hyperphenylalaninemia caused by defects in tetrahydrobiopterin metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/17846916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17846916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10545-007-0605-Z

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 December 2017

ResearchGate publication ID

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