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Phenylketonuria in adulthood: A collaborative study

Journal of inherited metabolic disease, 2002-09, Vol.25 (5), p.333-346

2002

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

Journal of inherited metabolic disease, 2006-12, Vol.29 (6), p.732-738

2006

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Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine

Journal of inherited metabolic disease, 2007-04, Vol.30 (2), p.153-158

2007

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Predictive information and explorative behavior of autonomous robots

The European physical journal. B, Condensed matter physics, 2008-06, Vol.63 (3), p.329-339

2008

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Mutation analysis anticipates dietary requirements in phenylketonuria

European journal of pediatrics, 2000-10, Vol.159 Suppl 2 (S2), p.S150-S153

2000

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Forensic postmortem computed tomography in suspected unnatural adult deaths

European journal of radiology, 2020-11, Vol.132, p.109297-109297, Article 109297

2020

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Missense Mutations in the N-Terminal Domain of Human Phenylalanine Hydroxylase Interfere with Binding of Regulatory Phenylalanine

American journal of human genetics, 2001-06, Vol.68 (6), p.1353-1360

2001

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Privacy in VANETs using Changing Pseudonyms - Ideal and Real

2007 IEEE 65th Vehicular Technology Conference - VTC2007-Spring, 2007, p.2521-2525

2007

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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

Molecular genetics and metabolism, 2001-02, Vol.72 (2), p.132-143

2001

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Treatable neurotransmitter deficiency in mild phenylketonuria

Neurology, 2001-09, Vol.57 (5), p.908

2001

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

European journal of pediatrics, 1996-07, Vol.155 Suppl 1 (S1), p.S6-S10

1996

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Maternal Phenylketonuria: An International Study

Molecular Genetics and Metabolism, 2000-09, Vol.71 (1-2), p.233-239

2000

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A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

American journal of human genetics, 1998-07, Vol.63 (1), p.71-79

1998

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Benefits of mutation analysis and examination of brain phenylalanine levels in the management of phenylketonuria

Pediatrics (Evanston), 2000-11, Vol.106 (5), p.1136

2000

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A simple method for identification of point mutations using denaturing gradient gel electrophoresis

Nucleic acids research, 1993-05, Vol.21 (9), p.2261-2262

1993

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Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease

European journal of neurology, 2006-04, Vol.13 (4), p.385-390

2006

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‘Broad-range’ DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene

Nucleic acids research, 1994-03, Vol.22 (5), p.880-881

1994

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Brain phenylalanine concentration in the management of adults with phenylketonuria

Journal of inherited metabolic disease, 2000-02, Vol.23 (1), p.7-14

2000

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Fluorescence microscopy of single molecules

Chemical physics letters, 1994-01, Vol.217 (4), p.393-397

1994

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The Maternal Phenylketonuria International Study: 1984-2002

Pediatrics (Evanston), 2003-12, Vol.112 (6 Pt 2), p.1523

2003

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Tetrahydrobiopterin and maternal PKU

Molecular genetics and metabolism, 2005-12, Vol.86, p.139-141

2005

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Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia

Acta Paediatrica, 1994-12, Vol.83 (s407), p.49-56

1994

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Danger of high‐protein dietary supplements to persons with hyperphenylalaninaemia

Journal of inherited metabolic disease, 2003-01, Vol.26 (4), p.339-342

2003

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Magnetic resonance imaging of the active second stage of labour: Proof of principle

European radiology, 2012-09, Vol.22 (9), p.2020-2026

2012

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Mutations in the phenylalanine hydroxylase gene: methods for their characterization

Acta Paediatrica, 1994-12, Vol.83 (s407), p.27-33

1994

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Phenylketonuria in adulthood: A collaborative study

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

Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine

Predictive information and explorative behavior of autonomous robots

Mutation analysis anticipates dietary requirements in phenylketonuria

Forensic postmortem computed tomography in suspected unnatural adult deaths

Missense Mutations in the N-Terminal Domain of Human Phenylalanine Hydroxylase Interfere with Binding of Regulatory Phenylalanine

Privacy in VANETs using Changing Pseudonyms - Ideal and Real

In Vitro Expression of 34 Naturally Occurring Mutant Variants of Phenylalanine Hydroxylase: Correlation with Metabolic Phenotypes and Susceptibility toward Protein Aggregation

Treatable neurotransmitter deficiency in mild phenylketonuria

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

Maternal Phenylketonuria: An International Study

A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

Benefits of mutation analysis and examination of brain phenylalanine levels in the management of phenylketonuria

A simple method for identification of point mutations using denaturing gradient gel electrophoresis

Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease

‘Broad-range’ DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene

Brain phenylalanine concentration in the management of adults with phenylketonuria

Fluorescence microscopy of single molecules

The Maternal Phenylketonuria International Study: 1984-2002

Tetrahydrobiopterin and maternal PKU

Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia

Danger of high‐protein dietary supplements to persons with hyperphenylalaninaemia

Magnetic resonance imaging of the active second stage of labour: Proof of principle

Mutations in the phenylalanine hydroxylase gene: methods for their characterization

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