(Q37231019)

19 August 2017

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title

What we know that could influence future treatment of phenylketonuria (English)

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19 August 2017

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C N Sarkissian

1

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19 August 2017

A Gámez

series ordinal

2

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19 August 2017

C R Scriver

series ordinal

3

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19 August 2017

publication date

3 August 2008

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Journal of Inherited Metabolic Disease

19 August 2017

published in

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19 August 2017

volume

32

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19 August 2017

issue

1

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19 August 2017

page(s)

3-9

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Non-ossifying fibroma of the spine

19 August 2017

cites work

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

21 January 2018

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Quantification of the importance of individual steps in the control of aromatic amino acid metabolism

21 January 2018

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Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions

21 January 2018

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12 December 2020

Gene therapy for phenylketonuria

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12 December 2020

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

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Systems biology. Life's complexity pyramid.

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Malignant hyperphenylalaninaemia—Current status (June 1977)

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12 December 2020

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

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12 December 2020

THE STRUCTURE OF THE PHENYLALANINE-HYDROXYLATION COFACTOR

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12 December 2020

Correction of phenylketonuria after liver transplantation in a child with cirrhosis

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12 December 2020

Protein therapeutics: a summary and pharmacological classification

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12 December 2020

Treatment of phenylalanine hydroxylase deficiency.

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12 December 2020

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

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12 December 2020

Retroviral-mediated gene transfer of human phenylalanine hydroxylase into NIH 3T3 and hepatoma cells

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12 December 2020

Human phenylalanine hydroxylase gene expression in kidney and other nonhepatic tissues

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12 December 2020

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

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12 December 2020

Correction in female PKU mice by repeated administration of mPAH cDNA using phiBT1 integration system

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12 December 2020

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

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12 December 2020

Mouse models of human phenylketonuria

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Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

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12 December 2020

Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment

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12 December 2020

Phenylalanine hydroxylation across the kidney in humans rapid communication

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Yeast phenylalanine ammonia-lyase. Purification, properties, and the identification of catalytically essential dehydroalanine

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12 December 2020

The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study

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12 December 2020

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

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12 December 2020

Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice

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12 December 2020

The time has come: a new scene for PKU treatment.

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12 December 2020

In vivo NMR spectroscopy in patients with phenylketonuria: clinical significance of interindividual differences in brain phenylalanine concentrations.

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12 December 2020

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

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12 December 2020

Brain phenylalanine concentration in the management of adults with phenylketonuria

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12 December 2020

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

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Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

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Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.

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In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function

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

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12 December 2020

The structural basis of phenylketonuria

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12 December 2020

The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England

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12 December 2020

A novel approach for enzyme replacement therapy. The use of phenylalanine hydroxylase-based fusion proteins for the treatment of phenylketonuria

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12 December 2020

Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer

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12 December 2020

Phenylketonuria due to phenylalanine hydroxylase deficiency: an unfolding story. Medical Research Council Working Party on Phenylketonuria

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12 December 2020

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

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12 December 2020

RETRACTED: Complete and persistent phenotypic correction of phenylketonuria in mice by site-specific genome integration of murine phenylalanine hydroxylase cDNA.

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12 December 2020

Early breastfeeding is linked to higher intelligence quotient scores in dietary treated phenylketonuric children

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12 December 2020

Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies

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12 December 2020

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

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12 December 2020

Hepatic gene therapy: adenovirus enhancement of receptor-mediated gene delivery and expression in primary hepatocytes

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12 December 2020

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

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12 December 2020

Metabolic engineering as therapy for inborn errors of metabolism--development of mice with phenylalanine hydroxylase expression in muscle

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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

Recommendations for protein and amino acid intake in phenylketonuric patients

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12 December 2020

Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria

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12 December 2020

Treatment of phenylketonuria with a diet low in phenylalanine.

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12 December 2020

Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer

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12 December 2020

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

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12 December 2020

Phenylketonuria: old disease, new approach to treatment

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12 December 2020

Comparison of genotype and intellectual phenotype in untreated PKU patients

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

The PAH gene, phenylketonuria, and a paradigm shift

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12 December 2020

Regulation of phenylalanine ammonia lyase in Rhodotorula glutinis

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12 December 2020

A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia.

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12 December 2020

Blood-brain barrier phenylalanine transport and individual vulnerability in phenylketonuria

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12 December 2020

Gene transfer and expression of human phenylalanine hydroxylase

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12 December 2020

In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings

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12 December 2020

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.

1 reference

12 December 2020

The metabolism of cinnamic acid by healthy and phenylketonuric adults: a kinetic study

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12 December 2020

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

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12 December 2020

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

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12 December 2020

PKU is a reversible neurodegenerative process within the nigrostriatum that begins as early as 4 weeks of age in Pah(enu2) mice

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12 December 2020

Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations

1 reference

12 December 2020

10.1007/S10545-008-0917-7

Identifiers

DOI

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19 August 2017

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