(Q37780949)

23 August 2017

title

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

publication date

1 September 2010

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Nature Reviews Endocrinology

23 August 2017

published in

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23 August 2017

volume

6

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23 August 2017

issue

9

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23 August 2017

page(s)

509-514

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

23 August 2017

exact match

0 references

cites work

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

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Future treatment strategies in phenylketonuria

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

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

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

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

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

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

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

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

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

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

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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

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

31 March 2020

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

31 March 2020

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

31 March 2020

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Protein misfolding and human disease

31 March 2020

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31 March 2020

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

Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

31 March 2020

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

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

31 March 2020

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12 December 2020

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

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12 December 2020

Phenylketonuria and its variants

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1038/NRENDO.2010.125

1 reference

23 August 2017

1 reference