(Q43267643)

17 November 2017

title

Management of phenylketonuria in Europe: survey results from 19 countries (English)

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17 November 2017

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17 November 2017

author name string

Amaya Bélanger-Quintana

2

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17 November 2017

Mübeccel Demirkol

3

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17 November 2017

François Feillet

4

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17 November 2017

Marcello Giovannini

5

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17 November 2017

Anita MacDonald

6

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17 November 2017

Friedrich K Trefz

7

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17 November 2017

Francjan van Spronsen

8

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European PKU centers

9

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17 November 2017

publication date

13 September 2009

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Molecular Genetics and Metabolism

17 November 2017

published in

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17 November 2017

volume

99

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17 November 2017

issue

2

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17 November 2017

page(s)

109-115

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

17 November 2017

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Barriers to successful dietary control among pregnant women with phenylketonuria

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

7 January 2021

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Survey of national guidelines for the treatment of phenylketonuria

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PKU-what is daily practice in various centres in Europe? Data from a questionnaire by the scientific advisory committee of the European Society of Phenylketonuria and Allied Disorders

7 January 2021

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

7 January 2021

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Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

7 January 2021

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Large neutral amino acids in the treatment of phenylketonuria (PKU).

7 January 2021

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

7 January 2021

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

7 January 2021

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Untreated non-phenylketonuric-hyperphenylalaninaemia: intellectual and neurological outcome

7 January 2021

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Effects of concurrent phenylalanine levels on sustained attention and calculation speed in patients treated early for phenylketonuria.

7 January 2021

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Pathogenesis of different clinical outcomes in spite of identical genotypes and comparable blood phenylalanine concentrations in phenylketonurics

7 January 2021

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Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria

7 January 2021

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Stability of blood phenylalanine levels and IQ in children with phenylketonuria

7 January 2021

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Neuropsychologic functions of early treated patients with phenylketonuria, on and off diet: results of a cross-national and cross-sectional study.

7 January 2021

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Effect on intelligence of relaxing the low phenylalanine diet in phenylketonuria

7 January 2021

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7 January 2021

Adult phenylketonuria

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Brain dysfunction in phenylketonuria: is phenylalanine toxicity the only possible cause?

7 January 2021

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The neurochemistry of phenylketonuria.

7 January 2021

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Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis

7 January 2021

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

7 January 2021

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Behavioural factors related to metabolic control in patients with phenylketonuria

7 January 2021

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10.1016/J.YMGME.2009.09.005

7 January 2021

Identifiers

DOI

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17 November 2017

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