(Q37936651)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21937252%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

review article

1 reference

title

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21937252%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

0 references

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21937252%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

author name string

Julia B Hennermann

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21937252%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Ulrich Langenbeck

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21937252%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Uta Lichter-Konecki

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21937252%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

language of work or name

1 reference

26 August 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21937252%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

13 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21937252%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

volume

104 Suppl

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21937252%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

page(s)

S2-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21937252%20AND%20SRC:MED&resulttype=core&format=json

Neonatal birth parameters of positive newborns at PKU screening as predictors of false-positive and positive results at recall-testing

13 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Use of the phenylalanine:tyrosine ratio to test newborns for phenylketonuria in a large public health screening programme.

7 January 2021

1 reference

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7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Disorders of biopterin metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

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.2011.08.017

Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

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.2011.08.017

Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

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.2011.08.017

Defining tetrahydrobiopterin (BH4)-responsiveness in PKU.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

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.2011.08.017

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Cerebrospinal Fluid Concentrations of Pterins and Metabolites of Serotonin and Dopamine in a Pediatric Reference Population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Detection by Phenylalanine Tolerance Tests of Heterozygous Carriers of Phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Metabolic conversion of L-[U-14C]phenylalanine to respiratory 14CO2 in healthy subjects, phenylketonuria heterozygotes and classic phenylketonurics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Comparative diagnostic value of phenylalanine challenge and phenylalanine hydroxylase activity in phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

The diagnosis of phenylketonuria: a report from the Collaborative Study of Children Treated for Phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Study design and description of patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Stability of blood phenylalanine levels and IQ in children with phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Effect of tetrahydrobiopterin on Phe/Tyr ratios and variation in Phe levels in tetrahydrobiopterin responsive PKU patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Modelling the phenylalanine blood level response during treatment of phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Body composition of reference children from birth to age 10 years

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Reaching out to the lost generation of adults with early-treated phenylketonuria (PKU).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Towards self-monitoring and self-treatment in phenylketonuria--a way to better diet compliance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

Molecular basis of phenotypic heterogeneity in phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.017

10.1016/J.YMGME.2011.08.017

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21937252%20AND%20SRC:MED&resulttype=core&format=json

release_clb754ysrfeg7mhg6dz6wpwqi4

13 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/clb754ysrfeg7mhg6dz6wpwqi4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference