(Q34183829)

31 July 2017

1 reference

title

Phenylalanine hydroxylase deficiency (English)

1 reference

31 July 2017

3

Charles R Scriver

0 references

John J. Mitchell

object named as

John J Mitchell

series ordinal

1

0 references

author name string

Yannis J Trakadis

series ordinal

2

1 reference

PubMed ID

21555948

31 July 2017

language of work or name

English

0 references

publication date

1 August 2011

1 reference

31 July 2017

1 reference

31 July 2017

13

1 reference

31 July 2017

8

1 reference

31 July 2017

697-707

1 reference

https://scigraph.springernature.com/pub.10.1097/gim.0b013e3182141b48

31 July 2017

0 references

cites work

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

1 reference

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

The PAH gene, phenylketonuria, and a paradigm shift

21 January 2018

1 reference

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

Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität

21 January 2018

1 reference

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

Metabolic studies in phenylketonuria

21 January 2018

1 reference

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

The influence of phenylalanine intake on the chemistry and behaviour of a phenyl-ketonuric child.

21 January 2018

1 reference

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

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

21 January 2018

1 reference

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

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

White matter pathology in phenylketonuria

21 January 2018

1 reference

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

Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses.

21 January 2018

1 reference

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

Neurological aspects of adult phenylketonuria

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Characterization of tremor in phenylketonuric patients.

21 January 2018

1 reference

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

21 January 2018

Adult phenylketonuria

1 reference

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

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

21 January 2018

1 reference

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

Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Disruption of prefrontal function and connectivity in individuals with phenylketonuria.

21 January 2018

1 reference

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

Neuropsychology of early-treated phenylketonuria: specific executive function deficits

21 January 2018

1 reference

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

Stability of blood phenylalanine levels and IQ in children with phenylketonuria

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

ADHD, learning, and academic performance in phenylketonuria

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

How practical are recommendations for dietary control in phenylketonuria?

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

A neuropsychological profile of off-diet adults with phenylketonuria.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Neurological outcome in adult patients with early-treated phenylketonuria.

21 January 2018

1 reference

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

Brain MRI changes in phenylketonuria. Associations with dietary status.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Phenylketonuria: old disease, new approach to treatment

21 January 2018

1 reference

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

Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria

21 January 2018

1 reference

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

Mutation analysis anticipates dietary requirements in phenylketonuria

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Monogenic traits are not simple: lessons from phenylketonuria

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Variations in genotype-phenotype correlations in phenylketonuria patients.

21 January 2018

1 reference

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

Blood-brain barrier phenylalanine transport and individual vulnerability in phenylketonuria.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

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

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

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

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

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

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

10.1097/GIM.0B013E3182141B48

21 January 2018

Identifiers

DOI

1 reference

PubMed ID

21555948

Dimensions Publication ID

31 July 2017

0 references

1 reference

PubMed ID

21555948