Phenylketonuria: a 21st century perspective (Q37780949)

23 August 2017

Phenylketonuria: a 21st century perspective (English)

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23 August 2017

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Francjan J van Spronsen

series ordinal

1

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23 August 2017

1 September 2010

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Nature Reviews Endocrinology

23 August 2017

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23 August 2017

6

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23 August 2017

9

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23 August 2017

509-514

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https://scigraph.springernature.com/pub.10.1038/nrendo.2010.125

23 August 2017

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cites work

Lowering brain phenylalanine levels by giving other large neutral amino acids. A new experimental therapeutic approach to phenylketonuria

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Phenylketonuria mutations in Europe

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Influence of phenylalanine intake on phenylketonuria

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Neonatal screening in Europe; the situation in 2004

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Future treatment strategies in phenylketonuria

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Intelligence and quality of dietary treatment in phenylketonuria

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

School performance in early and continuously treated phenylketonuria.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Motor function under lower and higher controlled processing demands in early and continuously treated phenylketonuria.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Executive function in early-treated phenylketonuria: profile and underlying mechanisms.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Psychosocial aspects of PKU: hidden disabilities--a review.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

The truth of treating patients with phenylketonuria after childhood: the need for a new guideline

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: a meta-analysis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Phenylketonuria in adulthood: a collaborative study

31 March 2020

1 reference

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Psychiatric disorders in adult patients with early-treated phenylketonuria.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Psychosocial issues and outcomes in maternal PKU.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Purification and use of glycomacropeptide for nutritional management of phenylketonuria

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Nutritional management of PKU with glycomacropeptide from cheese whey

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Acceptable low-phenylalanine foods and beverages can be made with glycomacropeptide from cheese whey for individuals with PKU.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Large doses of tryptophan and tyrosine as potential therapeutic alternative to dietary phenylalanine restriction in phenylketonuria

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Converting an injectable protein therapeutic into an oral form: phenylalanine ammonia lyase for phenylketonuria

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Long-term correction of murine phenylketonuria by viral gene transfer: liver versus muscle

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Protein misfolding and human disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Therapeutic approaches to protein-misfolding diseases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.125

Brain phenylalanine concentrations in phenylketonuria: research and treatment of adults.

31 March 2020

1 reference

12 December 2020

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

1 reference

12 December 2020

Phenylketonuria and its variants

1 reference

12 December 2020

[15 years of national screening for phenylketonuria in The Netherlands; 4th Report of the National Commission for Management of Phenylketonuria]

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRENDO.2010.125

1 reference

23 August 2017

1 reference

PubMed ID

20720592