(Q80752036)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17680344%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

title

Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia (English)

1 reference

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3 January 2020

1 reference

3

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3 January 2020

author name string

G Gramer

series ordinal

1

1 reference

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3 January 2020

P Burgard

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17680344%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

M Lindner

series ordinal

4

1 reference

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3 January 2020

publication date

6 August 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17680344%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

3 January 2020

published in

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3 January 2020

volume

30

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3 January 2020

issue

4

1 reference

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3 January 2020

page(s)

556-562

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

3 January 2020

cites work

1 reference

12 December 2020

Psychosocial aspects in phenylketonuria.

1 reference

12 December 2020

Tetrahydrobiopterin responsiveness in patients with phenylketonuria.

1 reference

12 December 2020

Management of phenylketonuria and hyperphenylalaninemia: the French guidelines

1 reference

12 December 2020

Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene

1 reference

12 December 2020

Tetrahydrobiopterin and maternal PKU.

1 reference

12 December 2020

Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria

1 reference

12 December 2020

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

1 reference

12 December 2020

American Academy of Pediatrics: Maternal phenylketonuria

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12 December 2020

Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency

1 reference

12 December 2020

Biopterin responsive phenylalanine hydroxylase deficiency

1 reference

12 December 2020

Mutation analysis anticipates dietary requirements in phenylketonuria

1 reference

12 December 2020

Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria

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

Phenylalaninaemia. Differential diagnosis

1 reference

12 December 2020

The structural basis of phenylketonuria

1 reference

12 December 2020

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood

1 reference

12 December 2020

Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration

1 reference

12 December 2020

How practical are recommendations for dietary control in phenylketonuria?

1 reference

12 December 2020

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype

1 reference

12 December 2020

Diet and compliance in phenylketonuria

1 reference

12 December 2020

Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria

1 reference

12 December 2020

Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy.

1 reference

12 December 2020

Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria

1 reference

12 December 2020

Differential diagnosis of tetrahydrobiopterin deficiency

1 reference

12 December 2020

Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study

1 reference

12 December 2020

Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997.

1 reference

12 December 2020

Response of patients with phenylketonuria in the US to tetrahydrobiopterin.

1 reference

12 December 2020

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

1 reference

12 December 2020

Study design and description of patients

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients

1 reference

12 December 2020

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

1 reference

12 December 2020

Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria

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

Standardized loading test with protein for the differentiation of phenylketonuria from hyperphenylalaninaemia

1 reference

12 December 2020