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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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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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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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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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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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Congenital heart disease in Maternal phenylketonuria: Report from the Maternal PKU Collaborative study

Pediatric research, 2001-05, Vol.49 (5), p.636-642

2001

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Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia

Pediatric research, 2001-04, Vol.49 (4), p.532-536

2001

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The International Study of Pregnancy Outcome in Women with Maternal Phenylketonuria: Report of a 12-year study

American journal of obstetrics and gynecology, 2000-02, Vol.182 (2), p.326-333

2000

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Phenylalanine hydroxylase gene mutations in the United States : Report from the maternal PKU collaborative study

American journal of human genetics, 1996-07, Vol.59 (1), p.84-94

1996

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

Pediatrics (Evanston), 1999-08, Vol.104 (2 Pt 1), p.258

1999

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Molecular Basis of Phenotypic Heterogeneity in Phenylketonuria

The New England journal of medicine, 1991-05, Vol.324 (18), p.1232-1238

1991

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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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Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)

Human genetics, 2000-12, Vol.107 (6), p.546-553

2000

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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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Phenylketonuria in adulthood: A collaborative study

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

2002

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The International Collaborative Study of Maternal Phenylketonuria: status report 1998

European journal of pediatrics, 2000-10, Vol.159 Suppl 2 (S2), p.S156-S160

2000

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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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Single-Step Mutation Scanning of the 6-Pyruvoyltetrahydropterin Synthase Gene in Patients with Hyperphenylalaninemia

Clinical chemistry (Baltimore, Md.), 1999-12, Vol.45 (12), p.2102-2108

1999

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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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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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PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population

Journal of inherited metabolic disease, 1996-01, Vol.19 (1), p.15-24

1996

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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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A Phenylalanine Hydroxylase Amino Acid Polymorphism with Implications for Molecular Diagnostics

Molecular genetics and metabolism, 2001-07, Vol.73 (3), p.280-284

2001

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Molecular Basis for the Phenotypic Diversity of Phenylketonuria

Pteridines, 1991-02, Vol.3 (1-2), p.5-10

Güttler, F.

1991

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Predictive information and explorative behavior of autonomous robots

Forensic postmortem computed tomography in suspected unnatural adult deaths

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

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

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

Congenital heart disease in Maternal phenylketonuria: Report from the Maternal PKU Collaborative study

Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia

The International Study of Pregnancy Outcome in Women with Maternal Phenylketonuria: Report of a 12-year study

Phenylalanine hydroxylase gene mutations in the United States : Report from the maternal PKU collaborative study

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

Molecular Basis of Phenotypic Heterogeneity in Phenylketonuria

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

Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)

Mutation analysis anticipates dietary requirements in phenylketonuria

Phenylketonuria in adulthood: A collaborative study

The International Collaborative Study of Maternal Phenylketonuria: status report 1998

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

Single-Step Mutation Scanning of the 6-Pyruvoyltetrahydropterin Synthase Gene in Patients with Hyperphenylalaninemia

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

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

PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population

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

A Phenylalanine Hydroxylase Amino Acid Polymorphism with Implications for Molecular Diagnostics

Molecular Basis for the Phenotypic Diversity of Phenylketonuria

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