C. Scriver

发表

PhenCode: connecting ENCODE data with mutations and phenotype

W. Miller, Daryl J. Thomas, J. Zieleński, 2007, Human mutation.

Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolites.

O. Mamer, C. Scriver, S. Tjoa, 1976, The Biochemical journal.

The Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W., and Vogelstein, B., eds., 8th ed., McGraw-Hill, New-York, 2001, 7012 p., $550.00)

William, Charles R. Scriver, A. Beaudet, 2004, Biochemistry (Moscow).

The effect of Mendelian disease on human health: a measurement.

J. Opitz, B. Childs, C. Scriver, 1985, American journal of medical genetics.

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe

P. Guldberg, G. Bertorelle, F. Calì, 2003, Human mutation.

Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH)

P. Waters, M. Parniak, C. Scriver, 1998, Human mutation.

The PAH gene, phenylketonuria, and a paradigm shift

C. Scriver, Charles R. Scriver, 2007, Human mutation.

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

P. Waters, M. Parniak, C. Scriver, 1999, Journal of Inherited Metabolic Disease.

Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia.

P. Waters, M. Parniak, C. Scriver, 2001, Molecular genetics and metabolism.

Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype.

P. Waters, M. Parniak, C. Scriver, 2000, Molecular Genetics and Metabolism.

Monogenic traits are not simple: lessons from phenylketonuria.

C R Scriver, P. Waters, C. Scriver, 1999, Trends in genetics : TIG.

Comparative analysis of phenylalanine hydroxylase A104D mutant, associated with variant phenylketonuria, and wild-type enzyme.

P. Knappskog, M. Parniak, C. Scriver, 1997, Biochemical Society transactions.

Analysis of Phenylalanine Hydroxylase Genotypes and Hyperphenylalaninemia Phenotypes Using L-[1-13C]Phenylalanine Oxidation Rates in Vivo: A Pilot Study1

P. Waters, M. Lambert, C. Scriver, 1997, Pediatric Research.

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

P. Waters, M. Parniak, C. Scriver, 1998, Human mutation.

Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience

P. Waters, M. Lambert, R. Laframboise, 1998, European Journal of Human Genetics.

Genomics, mutations and the Internet: The naming and use of parts

C. R. Scriver, C. Scriver, P. Nowacki, 1999, Journal of Inherited Metabolic Disease.

Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress

C R Scriver, H. Lehväslaiho, C. Scriver, 2000, Human mutation.

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

H. Lehväslaiho, C. Scriver, P. Nowacki, 1999, Human mutation.

Mutation nomenclature: Nicknames, systematic names, and unique identifiers

C R Scriver, V A McKusick, V. McKusick, 1996, Human mutation.

Hypertaurinuria in the C57BL/6J mouse: altered transport at the renal basolateral membrane.

R. Rozen, C. Scriver, F. Mohyuddin, 1983, The American journal of physiology.

SYNTHESIS OF METHOTREXATE POLYGLUTAMATES IN CULTURED HUMAN CELLS

D. Rosenblatt, C. Scriver, V. Whitehead, 1977, Pediatric Research.

Renal adaptation to phosphate deprivation in the Hyp mouse with X-linked hypophosphatemia.

C R Scriver, C. Scriver, H. Tenenhouse, 1979, Canadian journal of biochemistry.

Mendelian Phenotypes as “Probes” of Renal Transport Systems for Amino Acids and Phosphate

C. Scriver, H. Tenenhouse, 2011 .

Effect of the X-linkedHyp mutation onN-ethylmaleimide labelling of proteins in renal brush border membrane

C. Scriver, H. Tenenhouse, E. J. Vizel, 1987, Journal of Inherited Metabolic Disease.

Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3.

D. Cole, C. Scriver, T. Costa, 1981, Archives of disease in childhood.

Autosomal hypophosphataemic bonedisease responds

D. Cole, C. Scriver, T. Costa, 1981 .

Renal brush border membrane adaptation to phosphorus deprivation in the Hyp/Y mouse

C. Scriver, H. Tenenhouse, 1979, Nature.

X-linked hypophosphatemia. A phenotype in search of a cause.

C. Scriver, H. Tenenhouse, 1992, The International journal of biochemistry.

1 – Hereditary rickets

C. Scriver, D. Fraser, S. W. Kooh, 1982 .

Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease.

H. DeLuca, C. Scriver, A. Hamstra, 1978, The New England journal of medicine.

The defect in transcellular transport of phosphate in the nephron is located in brush-border membranes in X-linked hypophosphatemia (Hyp mouse model).

C. Scriver, H. Tenenhouse, 1978, Canadian journal of biochemistry.

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

C. Scriver, B. Murphy, S. Singh, 2006, Human mutation.

The hyperphenylalaninemias of man and mouse.

C. Scriver, R. Eisensmith, S. L. Woo, 1994, Annual review of genetics.

Journal of Inherited Metabolic Disease

Heidelberg, Padova, C., 1991, Springer Netherlands.

Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

R. Stevens, J. Dauvillier, A. Gámez, 2012, JIMD reports.

Response to treatment in hereditary metabolic disease: 1993 survey and 10-year comparison.

B. Childs, C. Scriver, E. Treacy, 1995, American journal of human genetics.

HARTNUP DISEASE: A GENETIC MODIFICATION OF INTESTINAL AND RENAL TRANSPORT OF CERTAIN NEUTRAL ALPHA-AMINO ACIDS.

C. Scriver, 1965, New England Journal of Medicine.

Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of tay‐sachs disease gene carriers among Ashkenazic Jews

J. Mulvihill, C. Scriver, F. Kaplan, 1992, Genetic epidemiology.

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

C. Scriver, J. Mitchell, A. Capua, 1996, American journal of human genetics.

A private view of heterozygosity: eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in Montreal.

C. Scriver, L. Cartier, S. Zeesman, 1984, American journal of medical genetics.

Should Milk Drinking by Children

Robert W. Miller, G. Forbes, L. Barness, 2006 .

Should Milk Drinking by Children Be Discouraged

O. L. Kline, Robert W. Miller, G. Forbes, 1974 .

Amino acid transport in mammalian kidney: Multiple systems for imino acids and glycine in rat kidney.

C. Scriver, F. Mohyuddin, 1970, The American journal of physiology.

Vitamin D dependency: an inherited postnatal syndrome with secondary hyperparathyroidism.

C. Scriver, C. Arnaud, T. Reade, 1970, Pediatrics.

Renal handling of phosphate in vivo and in vitro by the X-linked hypophosphatemic male mouse: evidence for a defect in the brush border membrane.

R. Mcinnes, F. Glorieux, C. Scriver, 1978, Kidney international.

Primary hyperparathyroidism and hyperaminoaciduria.

C. Scriver, C. Dent, D. C. Cusworth, 1972, Clinica chimica acta; international journal of clinical chemistry.

X-linked hypophosphatemia in Hyp/Y mouse a model of the human disease.

F. Glorieux, L. Paunier, C. Scriver, 1974, Pediatric Research.

Serum parathyroid hormone levels in acquired vitamin D deficiency of infancy.

F. Glorieux, C. Scriver, C. Arnaud, 1972, Pediatrics.

Serum Parathyroid Hormone in X-Linked Hypophosphatemia

F. Glorieux, C. Scriver, C. Arnaud, 1971, Science.

Loss of a Parathyroid Hormone-Sensitive Component of Phosphate Transport in X-Linked Hypophosphatemia

F. Glorieux, C. Scriver, 1972, Science.

Hyper-beta-alaninemia associated with beta-aminoaciduria and gamma-aminobutyricaciduaia, somnolence and seizures.

C. Scriver, S. Pueschel, E. Davies, 1966, The New England journal of medicine.

Hyperdibasicaminoaciduria: An Inherited Disorder of Amino Acid Transport[34]

C. Scriver, D. Whelan, 1968, Pediatric Research.

Amino Acid Transport: Evidence for Genetic Control of Two Types in Human Kidney

C. Scriver, O. H. Wilson, Charles R. Scriver, 1967, Science.

Hyperparathyroidism as the Cause of Hyperaminoaciduia and Phosphaturia in Human Vitamin D Deficiency

C. Scriver, D. Fraser, S. W. Kooh, 1967, Pediatric Research.

Response to Crystalline 1α-Hydroxyvitamin D3 in Vitamin D Dependency

H. DeLuca, F. Glorieux, M. Holick, 1975, Pediatric Research.

RENAL TUBULAR TRANSPORT OF PROLINE, HYDROXYPROLINE, AND GLYCINE IN HEALTH AND IN FAMILIAL HYPERPROLINEMIA.

C. Scriver, M. L. Efron, I. Schafer, 1964, The Journal of clinical investigation.

Rickets and the pathogenesis of impaired tubular transport of phosphate and other solutes.

C. Scriver, 1974, The American journal of medicine.

Parathyroid-dependent phosphaturia and aminoaciduria in the vitamin D-deficient rat.

J. Grose, C. Scriver, 1968, The American journal of physiology.

X-linked hypophosphataemic rickets: Inadequate therapeutic response to 1,25-dihydroxycholecalciferol.

H. DeLuca, F. Glorieux, M. Holick, 1973, The Lancet.

CHILDHOOD DIET AND CORONARY HEART DISEASE

O. L. Kline, Robert W. Miller, L. Barness, 1972, Pediatrics.

Structural and biochemical characterization of the therapeutic Anabaena variabilis phenylalanine ammonia lyase.

R. Stevens, E. Abola, P. Fitzpatrick, 2008, Journal of molecular biology.

The effect of Mendelian disease on human health. II: Response to treatment.

B. Childs, C. Scriver, T. Costa, 1985, American journal of medical genetics.

Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria

R. Stevens, P. Fitzpatrick, J. Lemontt, 2008, Proceedings of the National Academy of Sciences.

Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.

C. Scriver, R. Tanguay, J. Poudrier, 1998, Molecular genetics and metabolism.

Labile methyl group balances in the human: the role of sarcosine.

C. Scriver, M. Ebert, S. Mudd, 1980, Metabolism: clinical and experimental.

Community Genetics and Dignity in Diversity in the Quebec Network of Genetic Medicine

C. Scriver, 2006, Public Health Genomics.

COMMITTEE ON NUTRITION: THE RELATION BETWEEN INFANTILE HYPERCALCEMIA AND VITAMIN D—PUBLIC HEALTH IMPLICATIONS IN NORTH AMERICA

O. L. Kline, G. Owen, D. Coursin, 1967 .

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

F. Glorieux, F. Rauch, C. Scriver, 2004, Bone.

Cystic fibrosis genotypes and views on screening are both heterogeneous and population related.

C. Scriver, T. Fujiwara, 1992, American journal of human genetics.

Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency.

P. Matthews, D. Arnold, G. Brown, 1994, Pediatric neurology.

Phenylketonuria: the glutamine hypothesis.

C. Scriver, 1970, The New England journal of medicine.

The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients.

T. Fukao, N. Kondo, C. Scriver, 2001, Molecular genetics and metabolism.

Pyruvate carboxylase in human liver. Apparent loss of a component of catalytic activity in a form of lactic acidosis with hypoglycemia.

E. Delvin, C. Scriver, J. L. Neal, 1974, Biochemical medicine.

ONTOGENY OF AMINO ACID REABSORPTION IN MAMMALIAN KIDNEY, THE PROLINE MODEL

C. Scriver, M. Arthus, C. Schwab, 1981 .

The ontogeny of amino acid transport in rat kidney. II. Kinetics of uptake and effect of anoxia.

C. Scriver, F. Mohyuddin, K. Baerlocher, 1971, Biochimica et biophysica acta.

Transport of L-proline and -aminoisobutyric acid in the isolated rat kidney glomerulus.

C. Scriver, S. Mackenzie, 1971, Biochimica et biophysica acta.

Topology of membrane exposure in the renal cortex slice. Studies of glutathione and maltose cleavage.

C. Scriver, M. Arthus, M. Bergeron, 1982, Biochimica et biophysica acta.

Localization of the membrane defect in transepithelial transport of taurine by parallel studies in vivo and in vitro in hypertaurinuric mice.

R. Chesney, C. Scriver, F. Mohyuddin, 1976, The Journal of clinical investigation.

Ontogeny of Amino Acid Reabsorption in Human Kidney. Evidence from the Homozygous Infant with Familial Renal Iminoglycinuria for Multiple Proline and Glycine Systems

C. Scriver, L. Lasley, 1979, Pediatric Research.

Stable isotope dilution assay for branched chain alpha-hydroxy-and alpha-ketoacids: serum concentrations for normal children.

O. Mamer, C. Scriver, N. S. Laschic, 1986, Biomedical & environmental mass spectrometry.

Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia.

F. Glorieux, C. Scriver, T. Reade, 1972, The New England journal of medicine.

X-linked hypophosphataemia and autosomal recessive vitamin D dependency: Models for the resolution of vitamin D refractory rickets

F. Glorieux, C. Scriver, H. Tenenhouse, 1976 .

Cases are not incidence and Vice Versa

C. Scriver, 1988, Genetic epidemiology.

Primary cultures of renal epithelial cells from X-linked hypophosphatemic (Hyp) mice express defects in phosphate transport and vitamin D metabolism.

C. Scriver, H. Tenenhouse, C. L. Bell, 1988, American journal of human genetics.

X-linked hypophosphatemia: effect of calcitriol on renal handling of phosphate, serum phosphate, and bone mineralization.

F. Glorieux, P. Marie, D. Cole, 1981, The Journal of clinical endocrinology and metabolism.

Use of human genetic variation to study membrane transport of amino acids in kidney.

C. Scriver, 1969, American journal of diseases of children.

III. GENETIC BASIS FOR MORE THAN ONE MODE OF TRANSPORT IN HUMAN KIDNEY

C. Scriver, 1968 .

Renal tubular transport of proline, hydroxyproline, and glycine. 3. Genetic basis for more than one mode of transport in human kidney.

C. Scriver, 1968, The Journal of clinical investigation.

COMMITTEE ON NUTRITION OBESITY IN CHILDHOOD

O. L. Kline, G. Owen, D. Coursin, 1967 .

Abnormalities of Carbohydrate Metabolism in Idiopathic Fanconi Syndrome

R. Mcinnes, R. Chesney, C. Scriver, 1980, Pediatric Research.

Transport and metabolism of sarcosine in hypersarcosinemic and normal phenotypes.

F. Glorieux, E. Delvin, C. Scriver, 1971, The Journal of clinical investigation.

The ontogeny of amino acid transport in rat kidney. I. Effect on distribution ratios and intracellular metabolism of proline and glycine.

C. Scriver, F. Mohyuddin, K. Baerlocher, 1971, Biochimica et biophysica acta.

Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytes

D. W. Smith, O. Simell, C. Scriver, 1988, Human Genetics.

Ontogeny modifies manifestations of cystinuria genes: implications for counseling.

P. Goodyer, C. Scriver, C. Auray-Blais, 1985, The Journal of pediatrics.

Cystinuria: increased prevalence in patients with mental disease.

C. Scriver, L. Dallaire, D. Whelan, 1970, The New England journal of medicine.

The Effect of Intravenous Glucagon on Plasma Amino Acids in the Newborn

C. Scriver, A. Papageorgiou, J. Aranda, 1973, Pediatric Research.

Measurement of skinfold thickness in childhood.

O. L. Kline, G. Owen, D. Coursin, 1968, Pediatrics.

Hereditary tyrosinemia and tyrosyluria in a French Canadian geographic isolate.

C. Scriver, J. Larochelle, M. Silverberg, 1967, American journal of diseases of children.

Vitamin-responsive inborn errors of metabolism.

C. Scriver, 1973, Metabolism: clinical and experimental.

Familial hypophosphatemia: the dilemma of treatment.

C. Scriver, 1973, The New England journal of medicine.

Membrane transport in disorders of imino-acid metabolism.

C. Scriver, 1967, American journal of diseases of children.

Treatment of inherited disease: realized and potential.

C. Scriver, 1969, The Medical clinics of North America.

Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.

P. Matthews, G. Brown, M. Shevell, 1994, Brain : a journal of neurology.

Questions to the Past That Resonate in the Present

C. Scriver, 1990, Pediatric Research.

An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis.

O. Mamer, R. Daum, E. Delvin, 1973, Pediatric research.

An Inherited Disorder of Isoleucine Catabolism Causing Accumulation of α-Methylacetoacetate and α-Methyl-β-hydroxybutyrate, and Intermittent Metabolic Acidosis

O. Mamer, R. Daum, E. Delvin, 1973, Pediatric Research.

Uptake and metabolism of beta-alanine and L-carnosine by rat tissues in vitro: role in nutrition.

C. Scriver, W. Nutzenadel, 1976, The American journal of physiology.

Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia.

F. Glorieux, P. Marie, D. Cole, 1983, American journal of medical genetics.

Secreted collagen ratios in normal human and osteogenesis imperfecta skin fibroblasts.

C. Scriver, G. Lancaster, J. Fraser, 1983, Connective tissue research.

Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: Intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus

D. Chitayat, O. Mamer, O. Mamer, 1992, Journal of Inherited Metabolic Disease.

Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria.

H. Levy, C. Scriver, C. Sarkissian, 2018, Molecular genetics and metabolism.

Converting an injectable protein therapeutic into an oral form: phenylalanine ammonia lyase for phenylketonuria.

R. Stevens, T. Kang, A. Gámez, 2010, Molecular genetics and metabolism.

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

R. Stevens, P. Fitzpatrick, J. Lemontt, 2005, Molecular therapy : the journal of the American Society of Gene Therapy.

Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.

R. Rozen, M. Lambert, R. Laframboise, 1994, American journal of human genetics.

Phenylketonuria--genotypes and phenotypes.

C. Scriver, 1991, The New England journal of medicine.

Phenylketonuria: epitome of human biochemical genetics (second of two parts).

C. Scriver, C. Clow, 1980, The New England journal of medicine.

Phenylketonuria: epitome of human biochemical genetics (first of two parts).

C. Scriver, C. Clow, 1980, The New England journal of medicine.

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

J. McDonald, C. Scriver, C. Sarkissian, 2000, Molecular genetics and metabolism.

What we know that could influence future treatment of phenylketonuria

A. Gámez, C. Scriver, C. Sarkissian, 2009, Journal of Inherited Metabolic Disease.

We mean well: treatment of Mendelian disease.

C. Scriver, 1988, Acta paediatrica Japonica : Overseas edition.

Genetic and Metabolic Disease in Pediatrics

C. Scriver, J. Lloyd, 1985 .

Presidential Address: Physiological Genetics-Who Needs It?'

C. Scriver, De, 2006 .

[Demographic reproduction and genetic transmission in the north-east of the province of Quebec (18th-20th centuries)].

C. Laberge, G. Bouchard, C. Scriver, 1988, European journal of population = Revue europeenne de demographie.

AND OTHER PHENYLALANINE HYDROXYLATION MUTANTS IN MAN

C. Scriver, C. Clow, 1980 .

Vitamin D dependency.

C. Scriver, 1970, Pediatrics.

Hyperparathyroidism as the cause of hyperaminoaciduria and phosphaturia in human vitamin D deficiency.

C. Scriver, D. Fraser, S. W. Kooh, 1967, Pediatric research.

Plasma amino acids: screening, quantitation, and interpretation.

C. Scriver, P. Lamm, C. Clow, 1971, The American journal of clinical nutrition.

A rapid procedure for extracting genomic DNA from leukocytes.

R. Rozen, S. John, C. Scriver, 1991, Nucleic acids research.

Histidinaemia. Part III: Impact; a prospective study

H. Levy, C. Scriver, B. Kammerer, 1983, Journal of Inherited Metabolic Disease.

Commentary on breast-feeding and infant formulas, including proposed standards for formulas.

O. L. Kline, Robert W. Miller, G. Forbes, 1976, Pediatrics.

NEONATAL FAMILIAL PRIMARY HYPERPARATHYROIDISM.

C. Scriver, D. Hillman, S. Pedvis, 1964, The New England journal of medicine.

Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.

F. Güttler, A. Goltsov, L. Tyfield, 1995, American journal of human genetics.

New approaches to treat PKU: how far are we?

N. Blau, C. Scriver, 2004, Molecular genetics and metabolism.

GM1‐gangliosidosis without chondrodystrophy or visceromegaly

F. Andermann, J. Callahan, C. Scriver, 1970, Neurology.

On being an individual, or: the man in the red hat.

C. Scriver, 1979, Ciba Foundation symposium.

Genetics and biochemistry of variant human phenotypes

A. Beaudet, W. Sly, D. Cooper, 1989 .

Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria.

D. Chitayat, O. Mamer, C. Scriver, 1992, The Journal of pediatrics.

Novel PKU mutation on haplotype 2 in French-Canadians.

R. Rozen, C. Laberge, S. John, 1989, American Journal of Human Genetics.

Plasma free amino acid values in normal children and adolescents.

C. Scriver, C. Clow, D. Gregory, 1986, Metabolism: clinical and experimental.

Normal plasma free amino acid values in adults: the influence of some common physiological variables.

C. Scriver, D. Gregory, D. Sovetts, 1985, Metabolism: clinical and experimental.

3-Methylglutaconic aciduria: A marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a ‘new’ type (‘type 4’)

B. Rosenblatt, D. Chitayat, K. Gibson, 1992, Journal of Inherited Metabolic Disease.

Measurement of phenyllactate, phenylacetate, and phenylpyruvate by negative ion chemical ionization-gas chromatography/mass spectrometry in brain of mouse genetic models of phenylketonuria and non-phenylketonuria hyperphenylalaninemia.

O. Mamer, C. Scriver, C. Sarkissian, 2000, Analytical biochemistry.

X-linked hypophosphatemia: an appreciation of a classic paper and a survey of progress since 1958.

F. Glorieux, C. Scriver, H. Tenenhouse, 1991, Medicine.

Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria.

R. Stevens, G. Han, P. Fitzpatrick, 2005, Molecular genetics and metabolism.

X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney.

A. Ciampi, C. Scriver, K. Morgan, 1990, American journal of human genetics.

Nephrocalcinosis and its relationship to treatment of hereditary rickets.

P. Goodyer, J. Kronick, C. Scriver, 1987, The Journal of pediatrics.

Prediction of multiple hypermutable codons in the human PAH gene: Codon 280 contains recurrent mutations in Quebec and other populations

L. Tyfield, C. Scriver, S. Byck, 1997, Human mutation.

Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations.

B. Dworniczak, L. Tyfield, C. Scriver, 1994, Human molecular genetics.

Quantitation of phenylalanine and its trans-cinnamic, benzoic and hippuric acid metabolites in biological fluids in a single GC-MS analysis.

O. Mamer, C. Scriver, C. Sarkissian, 2007, Journal of mass spectrometry : JMS.

Phenylketonuria and other phenylalanine hydroxylation mutants in man.

C. Scriver, C. Clow, 1980, Annual review of genetics.

Predictive Medicine: a Goal for Genetic Screening*

C. Scriver, 1980 .

Genetic screening and allied services: structure, process and objective

C. Laberge, C. Scriver, C. Clow, 1977 .

Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria.

R. Stevens, P. Fitzpatrick, J. Lemontt, 2007, Molecular genetics and metabolism.

RENAL HYPOPHOSPHATAEMIA HAS SEVERAL MENDELIAN FORMS

C. Scriver, T. Reade, 1987, The Lancet.

Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine

D. Shapcott, C. Scriver, C. Auray-Blais, 1988, Journal of Inherited Metabolic Disease.

The Hartnup phenotype: Mendelian transport disorder, multifactorial disease.

C. Laberge, B. Mahon, B. Lemieux, 1987, American journal of human genetics.

Alkaptonuria: such a long journey

C. Scriver, 1996, Nature Genetics.

A -aminobutyrate pathway in mammalian kidney cortex.

C. Scriver, F. Mohyuddin, D. Whelan, 1973, Biochimica et biophysica acta.

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

R. Rozen, C. Laberge, S. John, 1990, American journal of human genetics.

Molecular studies of mitochondrial acetoacetyl‐coenzyme a thiolase deficiency in the two original families

T. Hashimoto, T. Fukao, C. Scriver, 1993, Human mutation.

Five mutations at the PAH locus account for almost 90% of PKU mutations in French‐Canadians from eastern Quebec

R. Rozen, C. Laberge, S. John, 1992, Human mutation.

Hypophosphatemic rickets and breast milk.

C. Scriver, T. Reade, 1979, The New England journal of medicine.

Effect of 1,25-dihydroxyvitamin D3 on phosphate homeostasis in the X-linked hypophosphatemic (Hyp) mouse.

C. Scriver, H. Tenenhouse, 1981, Endocrinology.

VITAMIN D INTAKE AND THE HYPERCALCEMIC SYNDROME.

G. Owen, D. Coursin, G. Donnell, 1965, Pediatrics.

Initiation and characterization of primary mouse kidney epithelial cultures

C. Scriver, H. Tenenhouse, C. L. Bell, 1988, In Vitro Cellular & Developmental Biology.

Detection of heterozygotes for recessive alleles. Homocyst(e)inemia: paradigm of pitfalls in phenotypes.

D. Rosenblatt, C. Scriver, J. Mcgill, 1990, American journal of medical genetics.

Histidinaemia. Part I: Reconciling retrospective and prospective findings

H. Levy, C. Scriver, 1983, Journal of Inherited Metabolic Disease.

The phenylalanine hydroxylase locus: a marker for the history of phenylketonuria and human genetic diversity. PAH Mutation Analysis Consortium.

C. Scriver, S. Byck, L. Prevost, 1996, Ciba Foundation symposium.

‘Celtic’ Phenylketonuria Chromosomes Found? Evidence in Two Regions of Quebec Province

C. Scriver, E. Treacy, S. Byck, 1993, European journal of human genetics : EJHG.

Neonatal hypertyrosinemia and evidence for deficiency of ascorbic acid in Arctic and subarctic peoples.

C. Laberge, C. Scriver, C. Clow, 1975, Canadian Medical Association journal.

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

R. Stevens, R. Matalon, Aurora Martínez, 2004, Proceedings of the National Academy of Sciences of the United States of America.

Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment.

S. Cederbaum, B. Burton, H. Levy, 2007, Molecular genetics and metabolism.

Heterogeneity in Genetic Control of Phenylalanine Metabolism in Man

D. Rosenblatt, C. Scriver, 1968, Nature.

Special Diets for Infants With Inborn Errors of Amino Acid Metabolism

O. L. Kline, Robert W. Miller, G. Forbes, 1976, Pediatrics.

Cystic fibrosis carrier screening by DNA analysis: a pilot study of attitudes among participants.

C. Scriver, F. Kaplan, C. Clow, 1991, American journal of human genetics.

Audiometric evidence for two forms of X‐linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse

J. Opitz, A. Boneh, C. Scriver, 1987, American journal of medical genetics.

Transepithelial transport of phosphate anion in kidney. Potential mechanisms for hypophosphatemia.

C. Scriver, T. E. Stacey, H. Tenenhouse, 1977, Advances in experimental medicine and biology.

X-linked hypophosphatemic rickets: A PTH-insensitive transport effect responsive to phosphate

F. Glorieux, C. Scriver, C. Arnaud, 1971, Pediatric Research.

HYPOPHOSPHATEMIC RICKETS WITH RENAL HYPER-GLYCINURIA, RENAL GLUCOSURIA, AND GLYCYL-PROLINURIA. A SYNDROME WITH EVIDENCE FOR RENAL TUBULAR SECRETION OF PHOSPHORUS.

C. Scriver, R. Goldbloom, C. Roy, 1964, Pediatrics.

GLYCYL-PROLINE IN URINE OF HUMANS WITH BONE DISEASE.

C. Scriver, 1964, Canadian journal of physiology and pharmacology.

Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts

D. W. Smith, O. Simell, C. Scriver, 1989, Journal of Inherited Metabolic Disease.

Associations between populations, phenylketonuria mutations and RFLP haplotypes at the phenylalanine hydroxylase locus: an overview

R. Rozen, S. John, C. Scriver, 1993 .

New Renal Tubular Amino-Acid Transport System and a New Hereditary Disorder of Amino-Acid Metabolism

C. Scriver, M. L. Efron, I. Schafer, 1961, Nature.

Prolidase deficiency: biochemical classification of alleles.

A. Boright, C. Scriver, F. Choy, 1989, American journal of human genetics.

Maple syrup urine disease: Interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination

D. Chitayat, O. Mamer, C. Scriver, 1992, Journal of Inherited Metabolic Disease.

So-called thiamin-responsive maple syrup urine disease: 15-year follow-up of the original patient.

C. Scriver, C. Clow, H. George, 1985, The Journal of pediatrics.

Branched-chain alpha-keto acids isolated as oxime derivatives: relationship to the corresponding hydroxy acids and amino acids in maple syrup urine disease.

O. Mamer, C. Scriver, G. Lancaster, 1974, Metabolism: clinical and experimental.

Mendelian hyperphenylalaninemia.

C. Scriver, S. L. Woo, S. Kaufman, 1988, Annual review of genetics.

Population screening: report of a workshop.

C. Scriver, 1985, Progress in clinical and biological research.

Decreased transport in renal basolateral membrane vesicles from hypertaurinuric mice.

C. Scriver, H. Tenenhouse, S. Mandla, 1988, The American journal of physiology.

Lysinuric protein intolerance mutation is expressed in the plasma membrane of cultured skin fibroblasts.

D. W. Smith, O. Simell, C. Scriver, 1987, Proceedings of the National Academy of Sciences of the United States of America.

Ornithine Loading Did Not Prevent Induced Hyper ammonemia in a Patient with Hyperornithinemia- Hyperammonemia-Homocitrullinuria Syndrome

O. Simell, C. Scriver, C. Clow, 1985, Pediatric Research.

The relationship of 4-aminobutyric acid metabolism to ammoniagenesis in renal cortex.

P. Goodyer, C. Scriver, G. Lancaster, 1980, Biochimica et biophysica acta.

Thin-layer chromatography assay of the branched-chain 2-oxo-acid dehydrogenase complex(es).

C. Scriver, S. Buhl, 1977, Biochemical medicine.

SCREENING FOR NEUROBLASTOMA

M. Bernstein, T. Sugimoto, C. Scriver, 1987, The Lancet.

GABA and Taurine What Are Metabolites Like This Doing in Places Like That

R. Rozen, P. Goodyer, C. Scriver, 1982 .

More on newborn screening for phenylketonuria: recommendations of the Committee on Genetics.

C. Scriver, 1983, Pediatrics.

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

P. Waters, C. Scriver, E. Treacy, 1997, American journal of human genetics.

The in Vivo Use of Dithiothreitol in Cystinosis

O. Mamer, E. Delvin, C. Scriver, 1977, Pediatric Research.

Oxidative Phosphorylation Diseases: Chapter 46.

A. Beaudet, W. Sly, D. Valle, 1995 .

The thalassemias and health care in Canada: a place for genetics in medicine.

S. Wong, C. Scriver, D. Chui, 1991, CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne.

NEONATAL IMINOGLYCINURIA: EVIDENCE THAT THE PROLINURIA ORIGINATES IN SELECTIVE DEFICIENCY OF TRANSPORT ACTIVITY IN THE PROXIMAL NEPHRON

C. Scriver, M. Arthus, M. Bergeron, 1982, Pediatric Research.

Renal transport of taurine adapts to perturbed taurine homeostasis.

R. Rozen, C. Scriver, 1982, Proceedings of the National Academy of Sciences of the United States of America.

Taurine transport in renal brush-border-membrane vesicles.

R. Rozen, C. Scriver, H. Tenenhouse, 1979, The Biochemical journal.

Ontogeny of iminoglycine transport in mammalian kidney.

C. Scriver, F. Mohyuddin, K. Baerlocher, 1970, Proceedings of the National Academy of Sciences of the United States of America.

Amino Acid Transport in Kidney HETEROGENEITY OF α-AMINOISOBUTYRIC UPTAKE

C. Scriver, F. Mohyuddin, 1968 .

Amino acid transport in kidney. Heterogeneity of alpha-aminoisobutyric uptake.

C. Scriver, F. Mohyuddin, 1968, The Journal of biological chemistry.

Specificity of transport of neutral and basic amino acids in rat kidney.

C. Scriver, O. H. Wilson, 1967, The American journal of physiology.

Quantitative analysis of branched-chain α-keto acids as their trimethylsilylated oximes

O. Mamer, C. Scriver, S. Tjoa, 1973 .

Magnetic Resonance Spectroscopy in Niemann-Pick Type C: Corrdation With Di is Clinical Response to Ch styramine and Lovas tin

D. Arnold, M. Shevell, R. Schreiber, 1994 .

Nutrient-gene interactions: the gene is not the disease and vice versa.

C. Scriver, 1988, The American journal of clinical nutrition.

The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001

C. Scriver, Charles R Scriver, 2001, Journal of Inherited Metabolic Disease.

Improved detection of β-thalassaemia carriers by a two-test method

U. Maag, C. Scriver, R. Gold, 1977, Human Genetics.

Every pediatrician a geneticist (1983): (with an evolutionary view of disease).

C. Scriver, 1984, Current problems in pediatrics.

The Canadian Rutherford Lecture - An evolutionary view of disease in man

C. Scriver, 1984, Proceedings of the Royal Society of London. Series B. Biological Sciences.

An evolutionary view of disease in man

C. Scriver, McGill University-Montreal, 1984 .

Phenylalanine hydroxylase deficiency

John J. Mitchell, Y. Trakadis, C. Scriver, 2011, Genetics in Medicine.

Age at Onset and Causes of Disease

B. Childs, C. Scriver, 2015, Perspectives in biology and medicine.

Genetics: Voyage of Discovery for Everyman: (Presidential Address to The Society for Pediatric Research, April 29,1976, St. Louis, Missouri)

C. Scriver, 1976, Pediatric Research.

The last day of the past is the first day of the future: Transitional care for genetic patients.

C. Scriver, Philip J. Lee, 2004, American Journal of Medicine.

Screening, counselling and treatment of hereditary metabolic disease; a survey of resources in Canada.

C. Scriver, J. Miller, J. Haworth, 1974, Canadian Medical Association journal.

Henry Friesen Award Lecture. Work, the clinician-scientist and human biochemical genetics.

C. Scriver, C. R. Scriver, 2001, Clinical and investigative medicine. Medecine clinique et experimentale.

Abnormalities of tryptophan metabolism in a patient with malabsorption syndrome.

C. Scriver, 1961, The Journal of laboratory and clinical medicine.

Amino acid metabolism and its disorders.

L. Rosenberg, C. Scriver, 1973, Major problems in clinical pediatrics.

Human genetics of membrane transport with emphasis on amino acids.

C R Scriver, P Hechtman, C. Scriver, 1970, Advances in human genetics.

Metabolism of methylmalonic acid in rats. Is methylmalonyl-coenzyme a racemase deficiency symptomatic in man?

O. Mamer, C. Scriver, J. Montgomery, 1983, The Journal of clinical investigation.

Metabolism of ethylmalonate to mesaconate in the rat. Evidence for trans-dehydrogenation of methylsuccinate.

O. Mamer, C. Scriver, J. Montgomery, 1983, The Biochemical journal.

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

C. Scriver, 2000, European Journal of Pediatrics.

Thiamine-responsive lactice acidosis in a patient with deficient low-KM pyruvate carboxylase activity in liver.

M. Brunette, E. Delvin, C. Scriver, 1972, Pediatrics.

Glutaric acidemia type II: neuroimaging and spectroscopy evidence for developmental encephalomyopathy.

D. Arnold, M. Shevell, C. Scriver, 1995, Pediatric neurology.

Feasibility of chemical screening of urine for neuroblastoma case finding in infancy in Quebec.

C. Laberge, M. Bernstein, C. Scriver, 1987, CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne.

Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn

C. Laberge, B. Lemieux, C. Scriver, 1989, Journal of Inherited Metabolic Disease.

A "new" disorder of isoleucine catabolism.

C R Scriver, O. Mamer, R. Daum, 1971, Lancet.

Thiamine-responsive maple-syrup-urine disease.

E. Delvin, C. Scriver, C. Clow, 1971, Lancet.

Properties of hair keratin in an autosomal dominant form of ectodermal dysplasia.

C. Scriver, R. Gold, 1972, American journal of human genetics.

The characterization of hereditary abnormalities of keratin: Clouston's ectodermal dysplasia.

C. Scriver, J. Reynold, M. B. Gold, 1971, Birth defects original article series.

Familial hyperprolinemia, cerebral dysfunction and renal anomalies occurring in a family with hereditary nephropathy and deafness.

C. Scriver, M. L. Efron, I. Schafer, 1962, The New England journal of medicine.

SIGNIFICANCE OF HYPERMETHIONÆMIA IN ACUTE TYROSINOSIS

C. Scriver, D. Rassin, J. Sturman, 1968 .

Plasma amino acids : screening , quantitation , and interpretation ” 2

C. Scriver, C. Clow, 2005 .

On the screening, diagnosis and investigation of hereditary aminoacidopathies.

C. Scriver, P. Lamm, C. Clow, 1973, Clinical biochemistry.

Iron balance and requirements in infancy.

G. Owen, D. Coursin, D. O'brien, 1969, Pediatrics.

Translating knowledge into practice in the "post-genome" era.

C. Scriver, C. Scriver, 2004, Acta paediatrica.

Vitamin B6-dependency and infantile convulsions.

C. Scriver, 1960, Pediatrics.

Alkaline phosphatase activity does not mediate phosphate transport in the renal-cortical brush-border membrane.

C. Scriver, H. Tenenhouse, E. J. Vizel, 1980, The Biochemical journal.

A Biomedical View of Enzyme Replacement Strategies in Genetic Disease

C. Scriver, 1977 .

Four novel PEPD alleles causing prolidase deficiency.

C. Scriver, P. Hechtman, P. Ledoux, 1994, American journal of human genetics.

A Pst+ Polymorphism in the HEXA Gene with an Unusual Geographic Distribution

S. Kapoor, M. Bobrow, C. Scriver, 1993, European journal of human genetics : EJHG.

Letter: Plasma-csf glycine ratio in normal and nonketotic hyperglycinemic subjects.

C. Scriver, W. Sprague, S. Horwood, 1975, The New England journal of medicine.

A FILTER PAPER SAMPLING METHOD FOR THE URIC ACID:CREATININE RATIO IN URINE

C. Scriver, P. Lamm, C. Clow, 1972, Pediatrics.

A filter paper sampling method for the uric acid:creatinine ratio in urine. Normal values in the the newborn.

R. Mcinnes, C. Scriver, P. Lamm, 1972, Pediatrics.

Vitamin B6 deficiency and dependency in man.

C. Scriver, 1967, American journal of diseases of children.

GLUTAMIC ACID DECARBOXYLASE (GAD) IN MAMMALIAN TISSUE OUTSIDE THE CENTRAL NERVOUS SYSTEM, AND ITS POSSIBLE RELEVANCE TO HEREDITARY VITAMIN B6 DEPENDENCY WITH SEIZURES *

C. Scriver, D. Whelan, 1969, Annals of the New York Academy of Sciences.

Ontogeny of L-Glutamic Acid Decarboxylase and γ-Aminobutyric Acid Concentration in Human Kidney

C. Scriver, F. Mohyuddin, G. Lancaster, 1975, Pediatric Research.

HYPERMETHIONINÆMIA IN ACUTE TYROSINOSIS

C. Scriver, C. Clow, M. Silverberg, 1966 .

APPLICATION OF A SIMPLE MICROMETHOD TO THE SCREENING OF PLASMA FOR A VARIETY OF AMINOACIDOPATHIES.

C. Scriver, E. Davies, A. Cullen, 1964, Lancet.

Possible Locations for a Common Gene Product in Membrane Transport of Imino-acids and Glycine

C. Scriver, O. H. Wilson, CHARLES R. SCRIVER, 1964, Nature.

Endogenous renal clearance rates of free amino acids in pre-pubertal children. (Employing an accelerated procedure for elution chromatography of basic amino acids on ion exchange resin).

C. Scriver, E. Davies, 1965, Pediatrics.

Committee on Nutrition

Charles R. Scriver, L. J. Filer, O. L. Kline, 1956, Pediatric Clinical Practice Guidelines & Policies.

Identification of deletion and triple α-globin gene haplotypes in the Montreal β-thalassemia screening program : implications for genetic medicine

C. Scriver, K. Morgan, T. Fujiwara, 1990 .

0-Thalassemia Disease Prevention: Genetic Medicine Applied

C. Scriver, L. Cartier, J. Ostrowsky, 2006 .

Beta-thalassemia genes in French-Canadians: haplotype and mutation analysis of Portneuf chromosomes.

C. Scriver, K. Morgan, F. Kaplan, 1990, American journal of human genetics.

HUMAN GENETICS: Lessons from

C. Scriver, Quebec Populations, 2001 .

Human Genetics: Lessons from Quebec Populations1

C. Scriver, 2001 .

The frequency of genetic disease and congenital malformation among patients in a pediatric hospital.

R. Saginur, C. Scriver, J. L. Neal, 1973, Canadian Medical Association journal.

PAHdb 2003: What a locus‐specific knowledgebase can do

Lynne Prevost, Manyphong Phommarinh, P. Waters, 2003, Human mutation.

Recommendations for locus‐specific databases and their curation

M. Vihinen, J. Beckmann, A. Brookes, 2008 .

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

M. Cortina-Borja, P. Hardelid, C. Scriver, 2007, Annals of human genetics.

FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide

Milan Macek, Charles R. Scriver, Sjozef van Baal, 2006, Nucleic Acids Res..

Human genetics: lessons from Quebec populations.

C. Scriver, 2001, Annual review of genomics and human genetics.

Science's neglected legacy

Stephen M. Maurer, Charles R. Scriver, Richard B. Firestone, 2000, Nature.

PAHdb: A locus‐specific knowledgebase

C R Scriver, Jaroslav P Novak, P. Waters, 2000, Human mutation.

Monogenic traits are not simple

P. Waters, C. Scriver, 1999 .

Soundings at the PKU locus

C. Scriver, 1986 .

Hypophosphatemic nonrachitic bone disease: an entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance.

J. Opitz, F. Glorieux, C. Scriver, 1977, American journal of medical genetics.

Observations on the composition of milk-substitute products for treatment of inborn errors of amino acid metabolism. Comparisons with human milk. A proposal to rationalize nutrient content of treatment products.

C. Scriver, C. Clow, M. Thomson, 1979, The American journal of clinical nutrition.

The application of an automated hexosaminidase assay to genetic screening.

E. Delvin, C. Scriver, R. Gold, 1974, Clinica chimica acta; international journal of clinical chemistry.

Tay-Sachs disease in Quebec: evidence for a geographic aggregate in the French-Canadian population and identification of a new retardation syndrome with possible linkage to the Tay-Sachs gene.

F. Andermann, E. Andermann, G. Geoffroy, 1973, Transactions of the American Neurological Association.

Dominantly Inherited Osteogenesis Imperfecta in Man: An Examination of Collagen Biosynthesis

C. Scriver, Gerald Lancaster, Hy Goldman, 1975, Pediatric Research.

Genetic aspects of renal tubular transport: diversity and topology of carriers.

R. Mcinnes, R. Chesney, C. Scriver, 1976, Kidney international.

Role of epithelial architecture and intracellular metabolism in proline uptake and transtubular reclamation in PRO/re mouse kidney.

R. Mcinnes, C. Scriver, F. Mohyuddin, 1975, Proceedings of the National Academy of Sciences of the United States of America.

Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets.

F. Glorieux, C. Scriver, J. Southard, 1976, Proceedings of the National Academy of Sciences of the United States of America.

Oral findings in patients with autosomal dominant hypophosphatemic bone disease and X-linked hypophosphatemia: further evidence that they are different diseases.

C. Scriver, S. Schwartz, T. Reade, 1988, Oral surgery, oral medicine, and oral pathology.

Amino acid metabolism and its disorders.

L. Rosenberg, C. Scriver, 1973, Major problems in clinical pediatrics.

Mutants: consumers with special needs.

C. Scriver, 2009, Nutrition reviews.

Management of hereditary metabolic disease. The role of allied health personnel.

C. Scriver, T. Reade, C. Clow, 1971, The New England journal of medicine.

The vitamin B6 deficiency syndrome in human infancy: biochemical and clinical observations.

C. Scriver, J. Hutchison, 1963, Pediatrics.

Window panes of eternity. Health, disease, and inherited risk.

C. Scriver, 1982, The Yale journal of biology and medicine.

What young people think and do when the option for cystic fibrosis carrier testing is available.

C. Scriver, F. Kaplan, J. Mitchell, 1993, Journal of medical genetics.

FLUORIDE AS A NUTRIEN

O. L. Kline, Robert W. Miller, L. Barness, 1972, Pediatrics.

American Pediatric Society's 2010 John Howland Award Acceptance Lecture: Some Things Considered

C. Scriver, 2011, Pediatric Research.

Garrod’s Croonian Lectures (1908) and the charter ‘Inborn Errors of Metabolism’: Albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008

C. Scriver, 2008, Journal of Inherited Metabolic Disease.

Outcome of early and long-term management of classical maple syrup urine disease.

C. Scriver, T. Reade, C. Clow, 1981, Pediatrics.

Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant.

C. Scriver, P. Macleod, S. Mackenzie, 1972, Canadian Medical Association journal.

Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population.

F. Andermann, E. Andermann, C. Scriver, 1977, Progress in clinical and biological research.

The biology of death: Origins of mortality

C. Scriver, 2004 .

The human genome project will not replace the physician

C. Scriver, 2004, Canadian Medical Association Journal.

Does hereditary metabolic disease modulate senescence and ageing?

C. Scriver, 2002, Journal of Inherited Metabolic Disease.

Realities and virtual realities of inborn errors of metabolism: biochemical genetics in the molecular genetic era.

C. Scriver, 1997, American journal of medical genetics.

American Pediatric Society Presidential Address 1995: Disease, War, and Biology: Languages for Medicine—and Pediatrics

C. Scriver, 1995, Pediatric Research.

Neuroblastoma screening: the Canadian experience.

C. Scriver, C. Auray-Blais, B. Lemieux, 1989, Medical and pediatric oncology.

After the genome—the phenome?

C. R. Scriver, C. Scriver, 2004, Journal of Inherited Metabolic Disease.

After the genomethe phenome? y

C. Scriver, 2004 .

Whatever happened to PKU?

C. Scriver, 1995, Clinical biochemistry.

The Alveolar Lining Layer : A Review of Studies on Its Role in Pulmonary Mechanics and in the Pathogenesis of Atelectasis

C. Scriver, 2022 .

Map, dictionary and directory of the human genome: reliable knowledge for research and couselling

C. Scriver, 1985 .

Letters to the EditorCARNOSINÆMIA

W. Tourtellotte, A. Lowenthal, C. Scriver, 1968 .

The isolation and properties of a beta-alanine permeaseless mutant of Pseudomonas fluorescens.

C. Scriver, P. Hechtman, 1970, Biochimica et biophysica acta.

In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus

C R Scriver, R. Rozen, S. John, 1992, Human mutation.

Cost-benefit analysis of a thalassemia disease prevention program.

C. Scriver, A. Lippman, J. Ostrowsky, 1985, American journal of public health.

Response from Ostrowsky, et al

C. Scriver, A. Lippman, J. Ostrowsky, 1986 .

Beta-thalassemia disease prevention: genetic medicine applied.

C. Scriver, L. Cartier, J. Ostrowsky, 1984, American journal of human genetics.

Genetics and Medicine: an evolving relationship.

C. Laberge, C. Scriver, F. Fraser, 1978, Science.

Allelic and Locus Heterogeneity

C. Scriver, 2006 .

Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics.

C. Scriver, 2002, The Journal of pediatrics.

A molecular abnormality of keratin in ectodermal dysplasia

C. Scriver, M. Williams, C. Solomons, 1965 .

Osteogenesis imperfecta: a heterogeneous morphologic phenotype in cultured dermal fibroblasts

A. Boright, C. Scriver, G. Lancaster, 2004, Human Genetics.

Urine screening for disorders of mucopolysaccharide metabolism.

C. Scriver, D. Whelan, C. Clow, 1969, Pediatrics.

Results of mass screening for hyperaminoacidemias in the newborn infant.

C. Scriver, C. Clow, E. Davies, 1969, American journal of diseases of children.

Transient tyrosinemia of the newborn: dietary and clinical aspects.

C. Scriver, M. Avery, B. P. Wasserman, 1967, Pediatrics.

Inborn errors of amino-acid metabolism.

C. Scriver, 1969, British Medical Bulletin.

A Commentary on Multiple Screening for Aminoacidopathies in the Newborn Infant.

C. Scriver, L. Stern, C. Clow, 1965, Canadian Medical Association journal.

Advocacy and compliance in genetic screening. Behavior of physicians and clients in a voluntary program of testing for the Tay-Sachs gene.

C. Scriver, C. Clow, S. Blaichman, 1974, The New England journal of medicine.

Accelerated selective short column chromatography of neutral and acidic amino acids on a beckman-spinco analyzer, modified for simultaneous analysis of two samples

C. Scriver, P. Lamm, E. Davies, 1967 .

SCREENING NEWBORNS FOR HEREDITARY METABOLIC DISEASE.

C. Scriver, 1965, Pediatric clinics of North America.

Proposed changes in Food and Drug Administration regulations concerning formula products and vitamin-mineral dietary supplements for infants.

O. L. Kline, G. Owen, D. Coursin, 1967, Pediatrics.

Histidinaemia. Part II: Impact; a retrospective study

H. Levy, C. Scriver, A. Rosenmann, 1983, Journal of Inherited Metabolic Disease.

The phenotypic manifestations of hereditary tyrosinemia and tyrosyluria: a hypothesis.

C. Scriver, 1967, Canadian Medical Association journal.

Prevention of mental retardation in offspring of hyperphenylalaninemic mothers.

J. Morissette, C. Scriver, L. Cartier, 1982, American Journal of Public Health.

Is hereditary histidinaemia harmful?

J. Grove, C. Scriver, J. Popkin, 1974, The Lancet.

Microassay of inorganic sulfate in biological fluids by controlled flow anion chromatography.

D. Cole, C. Scriver, 1981, Journal of chromatography.

The urinary excretion of organic acids in man: A survey of a variety of metabolic disturbances by two-dimensional paper partition chromatography

R. Dedmon, C. Scriver, C. Dent, 1961 .

Cystathioninuria and renal iminoglycinuria in a pedigree.

C. Scriver, D. Whelan, 1968, The New England journal of medicine.

Histidinemia discovered by urine screening after renal transplantation.

D. Rosenblatt, C. Scriver, F. Mohyuddin, 1970, Pediatrics.

Evaluation of metabolic pathway activity in cultured skin fibroblasts and blood leukocytes.

R. Rozen, C. Scriver, F. Mohyuddin, 1977, Clinica chimica acta; international journal of clinical chemistry.

American Academy of Pediatrics Committee on Genetics: New issues in newborn screening for phenylketonuria and congenital hypothyroidism.

N. Holtzman, A. Manley, R. Howell, 1982, Pediatrics.

Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis".

C. Laberge, D. Cole, H. Levy, 1980, Proceedings of the National Academy of Sciences of the United States of America.

Screening for medical intervention: the PKU experience.

C. Scriver, 1982, Progress in clinical and biological research.

Genetic causes of deviant metabolism. What do we know? What can we do?

C. Scriver, J. Lloyd, 1985 .

The salience of Garrod's ‘molecular groupings’ and ‘Inborn Factors in Disease’

C. R. Scriver, C. Scriver, 1989, Journal of Inherited Metabolic Disease.

Cystathioninuria, renal iminoglycinuria and...alpha 1-antitrypsin...deficiency in the same family: relevance in medical practice.

D. Cox, C. Scriver, F. Halal, 1979, Canadian Medical Association journal.

Hereditary tyrosinemia and tyrosyluria: clinical report of four patients.

C. Scriver, C. Clow, M. Silverberg, 1967, Canadian Medical Association journal.

The human biochemical genetics of amino acid transport.

C. Scriver, 1969, Pediatrics.

And Know the Place for the First Time * * Previously presented at the annual meeting of The Americ

C. Scriver, 2002 .

2001 ASHG Award for Excellence in Education. ... And know the place for the first time.

C. Scriver, 2002, American journal of human genetics.

Not preventing--yet, just avoiding Tay-Sachs disease.

C. Scriver, 2001, Advances in genetics.

Human genetics: schoolyard experiences.

C. Scriver, 1993, American journal of human genetics.

The Education of Citizens: Human Genetics.

C. Scriver, C. Clow, Dorothy Ellen Scriver, 1978 .

Howland Award Presentation to Barton Childs

C. Scriver, 1989, Pediatric Research.

INFANT METHEMOGLOBINEMIA

Robert W. Miller, L. Barness, G. Owen, 1970, Pediatrics.

Behaviour growth and development course, first year medicine McGill University.

C. Scriver, D. J. Lewis, N. Macdonald, 1969, Laval medical.

A behavior, growth and development course in first-year medicine.

C. Scriver, D. J. Lewis, N. Macdonald, 1969, Canadian Medical Association journal.

Parental origin of mutant allele does not explain absence of gene dose in X-linked Hyp mice.

C. Scriver, H. Tenenhouse, Z. Qiu, 1993, Genetical research.

Conserved loci on the X chromosome confer phosphate homeostasis in mice and humans.

C. Scriver, H. Tenenhouse, 1990, Genetical research.

Genetic screening, testing and treatment: How far can we go?

C. Scriver, 1996, Journal of Inherited Metabolic Disease.

Garrod's foresight; our hindsight

C. Scriver, Charles R. Scriver, 2001, Journal of Inherited Metabolic Disease.

American Academy of Pediatrics. Committee statement, Committee on Nutrition. Vitamin K supplementation for infants receiving milk substitute infant formulas and for those with fat malabsorption.

O. L. Kline, L. Barness, D. O'brien, 1971, Pediatrics.

Teaching of Behavior, Growth and Development in the Preclinical Years: McGill University

C. Scriver, R. Kinch, F. Lowy, 1971 .

The Nile in Canada: scientific outlook and society.

C. Scriver, 1980, Canadian Medical Association journal.

709 OUTCOME OF EARLY AND LONG-TERM MANAGEMENT OF CLASSICAL MAPLE SYRUP URINE DISEASE

C. Scriver, C. Clow, T. Reade, 1981, Pediatric Research.

Is there treatment for "genetic" disease?

C. Scriver, E. Treacy, 1999, Molecular genetics and metabolism.

MINIREVIEW Is There Treatment for "Genetic" Disease? 1

C. Scriver, E. Treacy, 1999 .

Mendelian hypophosphataemias as probes of phosphate and sulphate transport by mammalian kidney

D. Cole, C. Scriver, H. Tenenhouse, 1981 .

Properties of γ-aminobutyric acid synthesis by rat renal cortex

P. Goodyer, C. Scriver, M. Mills, 1982 .

Age-dependent serum sulfate levels in children and adolescents.

D. Cole, C. Scriver, 1980, Clinica chimica acta; international journal of clinical chemistry.

Magnetic resonance spectroscopy in Niemann-Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin.

C R Scriver, D. Arnold, M. Shevell, 1994, Pediatric neurology.

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.

John J. Mitchell, S. Lindstedt, E. Holme, 2012, Molecular genetics and metabolism.

Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase

P. Kaplan, C. Scriver, A. Niederwieser, 1987, Human Genetics.

Screening for Congenital Metabolic Disorders in the Newborn Infant: Congenital Deficiency of Thyroid Hormone and Hyperphenylalaninemia

C. Scriver, M. Feingold, H. Nadler, 1977, Pediatrics.

Inorganic sulfate in cerebrospinal fluid from infants and children.

D. Cole, C. Scriver, J. Shafai, 1982, Clinica chimica acta; international journal of clinical chemistry.

X-linked hypophosphataemia: A homologous phenotype in humans and mice with unusual organ-specific gene dosage

C. Scriver, H. Tenenhouse, C. R. Scriver, 1992, Journal of Inherited Metabolic Disease.

Sulfate transport by mouse renal cortical slices does not represent uptake by brush-border membrane.

D. Cole, C. Scriver, M. Koltay, 1984, Biochimica et biophysica acta.

Familial forms of vitamin D-resistant rickets revisited. X-linked hypophosphatemia and autosomal recessive vitamin D dependency.

C. Scriver, D. Fraser, 1976, The American journal of clinical nutrition.

The Gy mutation: another cause of X-linked hypophosphatemia in mouse.

M. Lyon, J. Kronick, C. Scriver, 1986, Proceedings of the National Academy of Sciences of the United States of America.

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

Liem Hoang, Susan Byck, Lynne Prevost, 1996, Nucleic Acids Res..

PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases

Piotr M. Nowacki, Susan Byck, Lynne Prevost, 1998, Nucleic Acids Res..

Norman John Berrill. 28 April 1903 — 15 October 1996

C. Scriver, 1999, Biographical Memoirs of Fellows of the Royal Society.

A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism.

John J. Mitchell, Philippe M. Campeau, C. Scriver, 2008, Molecular genetics and metabolism.

A gamma-aminobutyric acid-specific transport mechanism in mammalian kidney.

R. Rozen, P. Goodyer, C. Scriver, 1985, Biochimica et biophysica acta.

Phenylketonuria: and Some Other Inborn Errors of Amino Acid Metabolism, Biochemistry, Genetics, Diagnosis and Therapy, edited by Bickel, H., Hudson, F. P., and Woolf, L. I. New York: Intercontinental Medical Book Corporation, 1971, 336 pp., no price given

C. Scriver, 1973 .

Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbate.

P. Chessex, O. Mamer, L. Arbour, 1996, The Journal of pediatrics.

Expression and molecular analysis of mutations in prolidase deficiency.

C. Scriver, P. Hechtman, P. Ledoux, 1996, American journal of human genetics.

Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria.

Raymond C Stevens, Christineh N Sarkissian, R. Stevens, 2011, Molecular genetics and metabolism.

Response to crystalline 1alpha-hydroxyvitamin D3 in vitamin D dependency.

F. Glorieux, E. Delvin, C. Scriver, 1975, Pediatric Research.

A microassay for analysis of serum sulfate.

D. Cole, C. Scriver, F. Mohyuddin, 1979, Analytical Biochemistry.

Orthophosphate transport in the erythrocyte of normal subjects and of patients with X-linked hypophosphatemia.

C. Scriver, H. Tenenhouse, 1975, The Journal of clinical investigation.

URINARY VITAMIN B6 AND 4-PYRIDOXIC ACID IN HEALTH AND IN VITAMIN B6 DEPENDENCY.

C. Scriver, A. Cullen, 1965, Pediatrics.

On the application of knowledge to the patient with genetic disease.

C. Laberge, C. Scriver, F. Fraser, 1973, Progress in medical genetics.

Hypersarcosinemia: New Observations

F. Glorieux, C. Scriver, F. Mohyuddin, 1970, Pediatric Research.

Commentary on Breast-Feeding and Infant Formulas, Including Proposed Standards for Formulas

O. L. Kline, G. Forbes, L. Barness, 1976, Pediatrics.

Knowledge about and attitudes toward genetic screening among high-school students: the Tay-Sachs experience.

C. Scriver, C. Clow, C. Clow, 1977, Pediatrics.

Carrier Screening of Adolescents in Montreal

John J. Mitchell, C. Scriver, 2006 .

Megavitamin Therapy for Childhood Psychoses and Learning Disabilities

O. L. Kline, G. Forbes, L. Barness, 1976, Pediatrics.

Methylmalonic acidemia with a severe chemical but benign clinical phenotype.

O. Mamer, O. Mamer, C. Scriver, 1993, The Journal of pediatrics.

Intestinal transport of phosphate anion is not impaired in the Hyp (hypophosphatemic) mouse.

C. Scriver, H. Tenenhouse, D. Fast, 1981, Biochemical and biophysical research communications.

On the heritability of rickets, a common disease (Mendel, mammals and phosphate).

C. Scriver, H. Tenenhouse, 1981, The Johns Hopkins medical journal.

Genetics and Mammalian Transport Systems

C. Scriver, H. Tenenhouse, 1985, Annals of the New York Academy of Sciences.

The William Allan Memorial Award address: On phosphate transport and genetic screening. "Understanding backward--living forward" in human genetics.

C. Scriver, 1979, American journal of human genetics.

EFFECT OF 1,25(OH) 2 D 3 ON RENAL AND INTESTINAL TRANSPORT OF PHOSPHATE ANION IN Hyp MOUSE

C. Scriver, H. Tenenhouse, D. Fast, 1981 .

Diets and genes: euphenic nutrition.

C. Scriver, 1977, The New England journal of medicine.

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

T. Chang, C. Scriver, H. Su, 1999, Proceedings of the National Academy of Sciences of the United States of America.

The HUGO Mutation Database Initiative

R G H Cotton, V. McKusick, R. Cotton, 1998, The Pharmacogenomics Journal.

Niemann-Pick disease: prenatal diagnoses and studies of sphingomyelinase activities.

C. Scriver, D. Wenger, M. Sattler, 1978, American journal of medical genetics.

The use of biochemical data in screening for mutant alleles and in genetic counselling *

C R Scriver, U. Maag, C. Scriver, 1974, Annals of human genetics.

Novel Tay‐Sachs disease mutations from China

G. Vavougios, C. Scriver, D. Mahuran, 1992, Human mutation.

Glutamic Acid Decarboxylase and Gamma-aminobutyric Acid in Mammalian Kidney

C. Scriver, F. Mohyuddin, D. Whelan, 1969, Nature.

Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria.

R. Stevens, T. Kang, C. Scriver, 2011, Molecular genetics and metabolism.

Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria

R. Stevens, P. Fitzpatrick, J. Lemontt, 2008, Proceedings of the National Academy of Sciences.

Vitamins: An evolutionary perspective

C. Scriver, 1985, Journal of Inherited Metabolic Disease.

A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants, by Robert Guthrie and Ada Susi, Pediatrics, 1963;32:318-343.

C. Scriver, C. Scriver, 1998, Pediatrics.

The Metabolic and Molecular Bases of Inherited Disease

C. Scriver, 2001 .

Transport competence of plasma membrane vesicles from cultured human fibroblasts.

J. Buchanan, D. Rosenblatt, C. Scriver, 1985, Biochimica et biophysica acta.

Effect of Calciotropic Hormones and Cyclic Nucleotides on Aminoaciduria and Phosphaturia

R. Mcinnes, C. Scriver, 1980, Pediatric Research.