(Q37441175)

20 August 2017

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

1 reference

20 August 2017

1 reference

Erin L MacLeod

1

1 reference

20 August 2017

Sally T Gleason

series ordinal

2

1 reference

20 August 2017

Sandra C van Calcar

series ordinal

3

1 reference

20 August 2017

Denise M Ney

series ordinal

4

1 reference

20 August 2017

language of work or name

1 reference

8 August 2009

1 reference

Molecular Genetics and Metabolism

20 August 2017

1 reference

20 August 2017

98

1 reference

20 August 2017

4

1 reference

20 August 2017

331-337

1 reference

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

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

Nutritional management of PKU with glycomacropeptide from cheese whey

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

What we know that could influence future treatment of phenylketonuria

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

The PAH gene, phenylketonuria, and a paradigm shift

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

Assessment of adult phenylketonuria

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

The origin of the "ideal" body weight equations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

Monogenic traits are not simple: lessons from phenylketonuria

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

Phenylalanine flux, oxidation, and conversion to tyrosine in humans studied with L-[1-13C]phenylalanine.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

Effect of BH(4) supplementation on phenylalanine tolerance

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

Behavioural factors related to metabolic control in patients with phenylketonuria

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

Administration of protein substitute and quality of control in phenylketonuria: a randomized study

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

Phenylalanine requirement in children with classical PKU determined by indicator amino acid oxidation

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

Phenylketonuria in adulthood: a collaborative study

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype–phenotype correlations in phenylketonuria

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783926

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

3 December 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.016

Phenylketonuria: treatment in adolescence and adult life

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.016

Care of the adult with phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.016

Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.016

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.016

Intake of major nutrients by women in the Maternal Phenylketonuria (MPKU) Study and effects on plasma phenylalanine concentrations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.016

The need of essential amino acids in children. An evaluation based on the intake of phenylalanine, tyrosine, leucine, isoleucine, and valine in children with phenylketonuria, tyrosine amino transferase defect, and maple syrup urine disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.016

Tyrosine requirements in children with classical PKU determined by indicator amino acid oxidation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.016

Resting energy expenditure in children with phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.016

Phenylketonuria (PKU): screening and management

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19747868

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2009.07.016

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

19747868

1 reference