Phenylalanine hydroxylase deficiency (Q34183829)

31 July 2017

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title

Phenylalanine hydroxylase deficiency (English)

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31 July 2017

Charles R Scriver

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John J Mitchell

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Yannis J Trakadis

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31 July 2017

language of work or name

English

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publication date

1 August 2011

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31 July 2017

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31 July 2017

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31 July 2017

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31 July 2017

page(s)

697-707

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Phenylketonuria: epitome of human biochemical genetics (first of two parts).

31 July 2017

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Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

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21 January 2018

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

21 January 2018

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White matter pathology in phenylketonuria

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Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses.

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Neurological aspects of adult phenylketonuria

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Benefits of normalizing plasma phenylalanine: impact on behaviour and health. A case report

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Characterization of tremor in phenylketonuric patients.

21 January 2018

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Adult phenylketonuria

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Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controls

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Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis

21 January 2018

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Suboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence

21 January 2018

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Disruption of prefrontal function and connectivity in individuals with phenylketonuria

21 January 2018

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Neuropsychology of early-treated phenylketonuria: specific executive function deficits

21 January 2018

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Stability of blood phenylalanine levels and IQ in children with phenylketonuria

21 January 2018

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Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU).

21 January 2018

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ADHD, learning, and academic performance in phenylketonuria

21 January 2018

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The role of intelligence in phenylketonuria: a review of research and management

21 January 2018

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How practical are recommendations for dietary control in phenylketonuria?

21 January 2018

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Neuropsychological effects of subsequent exposure to phenylalanine in adolescents and young adults with early-treated phenylketonuria

21 January 2018

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Effects of dietary management of phenylketonuria on long-term cognitive outcome

21 January 2018

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A neuropsychological profile of off-diet adults with phenylketonuria.

21 January 2018

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Short-term dietary interventions in children and adolescents with treated phenylketonuria: effects on neuropsychological outcome of a well-controlled population.

21 January 2018

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Neurological outcome in adult patients with early-treated phenylketonuria

21 January 2018

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Brain MRI changes in phenylketonuria. Associations with dietary status

21 January 2018

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Impaired prenatal and postnatal growth in Dutch patients with phenylketonuria. The National PKU Steering Committee

21 January 2018

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Phenylketonuria: old disease, new approach to treatment

21 January 2018

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Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria

21 January 2018

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Mutation analysis anticipates dietary requirements in phenylketonuria

21 January 2018

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National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000.

21 January 2018

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Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review.

21 January 2018

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Elevated phenylalanine on newborn screening: follow-up testing may reveal undiagnosed galactosaemia

21 January 2018

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PAHdb 2003: what a locus-specific knowledgebase can do.

21 January 2018

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Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement.

21 January 2018

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In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: correlation with metabolic phenotypes and susceptibility toward protein aggregation

21 January 2018

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Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus

21 January 2018

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Monogenic traits are not simple: lessons from phenylketonuria

21 January 2018

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Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics

21 January 2018

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

21 January 2018

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Variations in genotype-phenotype correlations in phenylketonuria patients.

21 January 2018

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Blood-brain barrier phenylalanine transport and individual vulnerability in phenylketonuria

21 January 2018

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

21 January 2018

1 reference

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Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype

21 January 2018

1 reference

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Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia

21 January 2018

1 reference

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Activation of Phenylalanine Hydroxylase Induces Positive Cooperativity toward the Natural Cofactor

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Effect of genotype on changes in intelligence quotient after dietary relaxation in phenylketonuria and hyperphenylalaninaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Management of phenylketonuria in Europe: survey results from 19 countries

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

A preliminary investigation of the role of the phenylalanine:tyrosine ratio in children with early and continuously treated phenylketonuria: toward identification of "safe" levels

21 January 2018

1 reference

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Dietary management practices in phenylketonuria across European centres

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Wechsler subscale IQ and subtest profile in early treated phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Psychiatric disorders in adult patients with early-treated phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Maternal phenylketonuria: an international study

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Biopterin responsive phenylalanine hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Tetrahydrobiopterin and maternal PKU.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Tetrahydrobiopterin responsiveness in patients with phenylketonuria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Outcomes beyond phenylalanine: an international perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Phenylketonuria: dietary and therapeutic challenges

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

The essentiality of n-3 fatty acids for the development and function of the retina and brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Peak bone mass in patients with phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Purification and use of glycomacropeptide for nutritional management of phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Nutritional management of PKU with glycomacropeptide from cheese whey

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Toward PKU enzyme replacement therapy: PEGylation with activity retention for three forms of recombinant phenylalanine hydroxylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

State-of-the-art 2003 on PKU gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Therapeutic liver repopulation for phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Timing of strict diet in relation to fetal damage in maternal phenylketonuria. An international collaborative study by the MRC/DHSS Phenylketonuria Register

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Effect of high maternal blood phenylalanine on offspring congenital anomalies and developmental outcome at ages 4 and 6 years: the importance of strict dietary control preconception and throughout pregnancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Neonatal neurological assessment of offspring in maternal phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Outcome at age 4 years in offspring of women with maternal phenylketonuria: the Maternal PKU Collaborative Study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182141B48

Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency

21 January 2018

1 reference

9 November 2024

https://opencitations.net/index/api/v1/citations/10.1007/S10545-010-9091-9

Dietary long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: a randomized controlled trial

1 reference

9 November 2024

https://opencitations.net/index/api/v1/citations/10.1007/S10545-007-0491-4

Identifiers

DOI

10.1097/GIM.0B013E3182141B48

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Dimensions Publication ID

31 July 2017

1030613086

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1 reference