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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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Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study

Molecular genetics and metabolism, 2019-12, Vol.128 (4), p.415-421

2019

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Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany

Human mutation, 2007-02, Vol.28 (2), p.207-207

2007

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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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Molecular Analysis of Phenylketonuria in Denmark: 99% of the Mutations Detected by Denaturing Gradient Gel Electrophoresis

Genomics (San Diego, Calif.), 1993-07, Vol.17 (1), p.141-146

1993

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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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Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation

Journal of inherited metabolic disease, 2010-02, Vol.33 (1), p.9-16

2010

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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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Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe

Human molecular genetics, 1993-10, Vol.2 (10), p.1703-1707

1993

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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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Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections

Movement disorders, 2005-06, Vol.20 (6), p.764-767

2005

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

Nature (London), 1983-11, Vol.306 (5939), p.151-155

1983

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Pregnancy experiences in the woman with mild hyperphenylalaninemia

Pediatrics (Evanston), 2003-12, Vol.112 (6 Pt 2), p.1548

2003

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Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex

Molecular genetics and metabolism, 2005-12, Vol.86, p.119-123

2005

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Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome

Pediatrics (Evanston), 2003-12, Vol.112 (6 Pt 2), p.1530

2003

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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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Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia

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

2001

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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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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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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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‘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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Comparison of epidermal keratinocytes and dermal fibroblasts as potential target cells for somatic gene therapy of phenylketonuria

Molecular genetics and metabolism, 2002-08, Vol.76 (4), p.313-318

2002

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Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency

Prenatal diagnosis, 2005-08, Vol.25 (8), p.671-675

2005

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Necessity of Complete Intake of Phenylalanine-free Amino Acid Mixture for Metabolic Control of Phenylketonuria

Journal of the American Dietetic Association, 1999-12, Vol.99 (12), p.1559-1563

1999

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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

Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study

Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany

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

Molecular Analysis of Phenylketonuria in Denmark: 99% of the Mutations Detected by Denaturing Gradient Gel Electrophoresis

Molecular Basis of Phenotypic Heterogeneity in Phenylketonuria

Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation

The Maternal Phenylketonuria International Study: 1984-2002

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe

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

Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections

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

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

Pregnancy experiences in the woman with mild hyperphenylalaninemia

Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex

Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome

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

Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia

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

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

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

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

Comparison of epidermal keratinocytes and dermal fibroblasts as potential target cells for somatic gene therapy of phenylketonuria

Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency

Necessity of Complete Intake of Phenylalanine-free Amino Acid Mixture for Metabolic Control of Phenylketonuria

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