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Monogenic traits are not simple: lessons from phenylketonuria

Trends in Genetics, 1999-07, Vol.15 (7), p.267-272

1999

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After the genome—the phenome?

Journal of inherited metabolic disease, 2004-01, Vol.27 (3), p.305-317

Scriver, C. R.

2004

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What we know that could influence future treatment of phenylketonuria

Journal of inherited metabolic disease, 2009-02, Vol.32 (1), p.3-9

2009

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Proof of "disease causing" mutation

Human mutation, 1998, Vol.12 (1), p.1-3

1998

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Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and β-thalassemia disease carriers in high schools

American journal of human genetics, 1996-10, Vol.59 (4), p.793-798

1996

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Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations

American journal of human genetics, 1997-12, Vol.61 (6), p.1309-1317

1997

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A rapid procedure for extracting genomic DNA from leukocytes

Nucleic acids research, 1991-01, Vol.19 (2), p.408-408

1991

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Translating knowledge into practice in the post-genome era

Acta pædiatrica (Oslo), 2004-03, Vol.93 (3), p.294-300

SCRIVER, C. R

2004

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Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice

Bone (New York, N.Y.), 2004, Vol.34 (1), p.134-139

2004

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Human genetics: lessons from Quebec populations

Annual review of genomics and human genetics, 2001-01, Vol.2 (1), p.69-101

Scriver, C R

2001

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Garrod's foresight; our hindsight

Journal of inherited metabolic disease, 2001-04, Vol.24 (2), p.093-116

Scriver, C. R.

2001

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Recommendations for locus-specific databases and their curation

Human mutation, 2008, Vol.29 (1), p.2-5

2008

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Phenylalanine hydroxylase deficiency

Genetics in medicine, 2011-08, Vol.13 (8), p.697-707

2011

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Expression and molecular analysis of mutations in prolidase deficiency

American journal of human genetics, 1996-11, Vol.59 (5), p.1035-1039

1996

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Does hereditary metabolic disease modulate senescence and ageing?

Journal of inherited metabolic disease, 2002-05, Vol.25 (3), p.235-251

Scriver, C. R.

2002

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Guidelines and recommendations for content, structure, and deployment of mutation databases

Human mutation, 1999, Vol.13 (5), p.344-350

1999

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Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria

Journal of inherited metabolic disease, 1999-05, Vol.22 (3), p.208-212

1999

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The Birth Prevalence of PKU in Populations of European, South Asian and Sub‐Saharan African Ancestry Living in South East England

Annals of human genetics, 2008-01, Vol.72 (1), p.65-71

2008

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Mutation analysis in metabolic (and other genetic) disease: how soon, how useful

European journal of pediatrics, 2000-12, Vol.159 Suppl 3 (S3), p.S243-S245

Scriver, C R

2000

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An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria

The Journal of clinical investigation, 1998-06, Vol.101 (12), p.2613-2614

Scriver, C R

1998

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The HUGO Mutation Database Initiative

Science (American Association for the Advancement of Science), 1998-01, Vol.279 (5347), p.10-11

1998

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PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus

Nucleic acids research, 1996-01, Vol.24 (1), p.127-131

1996

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A Different Approach to Treatment of Phenylketonuria: Phenylalanine Degradation with Recombinant Phenylalanine Ammonia Lyase

Proceedings of the National Academy of Sciences - PNAS, 1999-03, Vol.96 (5), p.2339-2344

1999

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CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene

Human mutation, 2006-09, Vol.27 (9), p.975-975

2006

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The Clinical Phenotype and Outcome of Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (β-Ketothiolase or T2 Deficiency) in 26 Enzymatically Proved and Mutation-Defined Patients

Molecular genetics and metabolism, 2001-02, Vol.72 (2), p.109-114

2001

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Monogenic traits are not simple: lessons from phenylketonuria

After the genome—the phenome?

What we know that could influence future treatment of phenylketonuria

Proof of "disease causing" mutation

Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and β-thalassemia disease carriers in high schools

Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations

A rapid procedure for extracting genomic DNA from leukocytes

Translating knowledge into practice in the post-genome era

Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice

Human genetics: lessons from Quebec populations

Garrod's foresight; our hindsight

Recommendations for locus-specific databases and their curation

Phenylalanine hydroxylase deficiency

Expression and molecular analysis of mutations in prolidase deficiency

Does hereditary metabolic disease modulate senescence and ageing?

Guidelines and recommendations for content, structure, and deployment of mutation databases

Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria

The Birth Prevalence of PKU in Populations of European, South Asian and Sub‐Saharan African Ancestry Living in South East England

Mutation analysis in metabolic (and other genetic) disease: how soon, how useful

An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria

The HUGO Mutation Database Initiative

PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus

A Different Approach to Treatment of Phenylketonuria: Phenylalanine Degradation with Recombinant Phenylalanine Ammonia Lyase

CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene

The Clinical Phenotype and Outcome of Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (β-Ketothiolase or T2 Deficiency) in 26 Enzymatically Proved and Mutation-Defined Patients

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