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List of works by Charles R. Scriver

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

scientific article published on 04 January 2002

2015 Victor A. McKusick Leadership Award

scientific article published on March 2016

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

scientific article

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

scientific article published in June 1965

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

scientific article published on April 1969

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

scientific article published in March 2000

A rapid procedure for extracting genomic DNA from leukocytes

scientific article

Adolescent cystinosis: comparisons with infantile and adult forms ⬇️

scientific article published on June 1, 1971

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

scientific article published in November 1974

After the genome--the phenome?

scientific article published on January 2004

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

scientific article

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

scientific article published on January 1998

American Pediatric Society's 2010 John Howland Award acceptance lecture: some things considered

scientific article

Amino acid metabolism and its disorders.

scientific article published in January 1973

Amino acid transport: factors influencing uptake in kidney and intestine.

scientific article

An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria ⬇️

scientific article published on June 15, 1998

Archibald Garrod and the Individuality of Man.

scientific article published in January 1994

Assessing Genetic Risks: Implications for Health and Social Policy.

scientific article

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

scientific article published in August 1987

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

scientific article

Avoiding phenylketonuria: why parents seek prenatal diagnosis

scientific article published on September 1988

Beta-thalassemia disease prevention: genetic medicine applied.

scientific article

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

scientific article published on January 1990

Cases are not incidence and vice versa

scientific article published on January 1988

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

scientific article published on October 1994

Changing heritability of nutritional disease: another explanation for clustering.

scientific article published on January 1990

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

scientific article

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

scientific article

Child health, the genome project and phenylketonuria.

scientific article published in July 1993

Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine

scientific article

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

scientific article published on January 2010

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

scholarly article

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

scientific article published in September 2006

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

scientific article published on July 7, 1979

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

scientific article published on July 1991

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

scientific article published in November 1992

Cystinotic and normal fibroblasts: differential protection in cystine-free medium by dithiothreitol.

scientific article published in January 1982

Cystinuria: increased prevalence in patients with mental disease

scientific article published in October 1970

Degradation rates differ between mutant and wild-type forms of phenylalanine hydroxylase expressed in vitro

scientific article published on August 1998

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

scientific article published on May 1990

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

scientific article published in June 2005

Diets and Genes: Euphenic Nutrition ⬇️

scientific article published on July 28, 1977

Different Clinical Forms of Hereditary Tyrosinemia (Type I) in Patients with Identical Genotypes ⬇️

scientific article published on June 1, 1998

Disease, war, and biology: languages for medicine--and pediatrics.

scientific article

Does hereditary metabolic disease modulate senescence and ageing?

scientific article

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

scientific article published on July 13, 2012

Encomium to accompany "Of mice and children: reminiscences of a teratogeneticist".

scientific article published in September 2008

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

scientific article published in June 1977

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

scientific article published on June 29, 2011

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

scientific article published on 28 November 2006

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

scientific article published on November 1, 1976

Familial hypophosphatemia: the dilemma of treatment

scientific article published in September 1973

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

scientific article published on May 1987

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

scientific article published on January 1, 1992

GM1-gangliosidosis without chondrodystrophy or visceromegaly. B-galactosidase deficiency with gangliosidosis and the excessive excretion of a keratan sulfate

scientific article published in January 1970

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

scientific article

Garrod's legacy to the nations of mice and men.

scientific article published on January 1981

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

scientific article published on February 1, 1976

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe

scientific article published in April 2003

Genetic science and education: attacks on ignorance: introduction to the education workshop

scientific article published on January 1993

Genetics and mammalian transport systems

scientific article

Genetics: voyage of discovery for Everyman. (Presidential address to the Society for Pediatric Research, April 29, 1976, St. Louis, Missouri)

scientific article published on October 1, 1976

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

scientific article published in June 1999

Glutamic acid decarboxylase (GAD) in mammalian tissue outside the central nervous system, and its possible relevance to hereditary vitamin B6 dependency with seizures

scientific article published in September 1969

Glutamic acid decarboxylase and gamma-aminobutyric acid in mammalian kidney

scientific article published in November 1969

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

scientific article published in May 1995

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

scientific article published on January 1999

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

scientific article published on January 2000

Hereditary tyrosinemia and tyrosyluria: clinical report of four patients

scientific article published in October 1967

Histidinemia discovered by urine screening after renal transplantation ⬇️

scientific article published on July 1, 1970

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

scientific article published on December 1, 1997

Human genetics of membrane transport with emphasis on amino acids

scientific article

Human genetics: lessons from Quebec populations

scientific article

Human genetics: schoolyard experiences

scientific article published on January 1993

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

scientific article published in March 1966

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

scientific article published on December 1, 1976

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

scientific article published on January 1, 1977

IV. ASHG activities relative to human genetics education: How the annual meeting changes the teaching of medicine.

scientific article published on August 1987

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

scientific article published on January 1, 1992

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

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

scientific article

Inborn errors of amino-acid metabolism ⬇️

scientific article

Investigation in vivo of the Biochemical Defect in Hereditary Tyrosinemia and Tyrosyluria

scientific article

Is there treatment for "genetic" disease?

scientific article

Isolation and properties of a beta-alanine transaminaseless mutant of Pseudomonas fluorescens

scientific article published on November 1970

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

scientific article published on January 1, 1977

Labile methyl group balances in the human: The role of sarcosine ⬇️

scientific article published on August 1, 1980

Letter: Parathyroid hormone secretion in X-linked hypophosphatemia

scientific article

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

scientific article published on October 9, 1975

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

scientific article published on January 1, 1976

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

scientific article

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

scientific article published on May 1994

Maladies héréditaires du métabolisme chez l'enfant

scientific article published in May 1970

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

scientific article

Mendelian hyperphenylalaninemia

scientific article published on January 1988

Metabolic abnormalities in the idiopathic Fanconi syndrome: studies of carbohydrate metabolism in two patients

scientific article published in January 1981

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

scientific article published on December 1983

Methylmalonic acidemia with a severe chemical but benign clinical phenotype

scientific article published in March 1993

Monogenic traits are not simple: lessons from phenylketonuria

scientific article

Mutants: consumers with special needs ⬇️

scientific article published on July 1, 1971

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

article

Mutation nomenclature: nicknames, systematic names, and unique identifiers

scientific article published on January 1996

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

scientific article published in August 1994

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

scientific article published on October 4, 1975

Neonatal iminoglycinuria: evidence that the prolinuria originates in selective deficiency of transport activity in the proximal nephron

scientific article

Neutral amino acid transport in Pseudomonas fluorescens

scientific article published on November 1970

New approaches to treat PKU: how far are we?

scientific article published on January 2004

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

scientific article published in September 1985

Novel PKU mutation on haplotype 2 in French-Canadians

scientific article published on December 1989

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

scientific article published on December 1988

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 products2 ⬇️

scientific article published on June 1, 1979

On Being an Individual, or: The Man in the Red Hat ⬇️

scientific article published on June 27, 1979

On the application of knowledge to the patient with genetic disease

scientific article

On the screening, diagnosis and investigation of hereditary aminoacidopathies ⬇️

scientific article published on September 1, 1973

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

scientific article published on January 1, 1979

Ontogeny of L-glutamic acid decarboxylase and gamma-aminobutyric acid concentration in human kidney

scientific article published on May 1, 1975

Ontogeny of iminoglycine transport in mammalian kidney

scientific article

Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

scientific article published on December 1985

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

scientific article published on March 1, 1975

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

scientific article published on January 1, 1998

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

scientific article published on January 1996

PAHdb 2003: what a locus-specific knowledgebase can do.

scientific article

PAHdb: a locus-specific knowledgebase

scientific article published in January 2000

PKU and beyond: when do costs exceed benefits?

scientific article

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

scientific article published on September 9, 1972

PhenCode: connecting ENCODE data with mutations and phenotype

scientific article

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

scholarly article by Harvey L. Levy published in August 2018

Phenylalanine hydroxylase deficiency

scientific article

Phenylketonuria and diet

scientific article published in January 1968

Phenylketonuria and other phenylalanine hydroxylation mutants in man.

scientific article published on January 1980

Phenylketonuria--genotypes and phenotypes

scientific article published in May 1991

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

scientific article published on December 1980

Phenylketonuria: the glutamine hypothesis

scientific article published on April 1970

Physiological genetics--who needs it?

scientific article

Plasma amino acids: screening, quantitation, and interpretation ⬇️

scientific article published on July 1, 1971

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

scholarly article

Prenatal diagnosis for inborn errors of metabolism and haemoglobinopathies: the Montreal Children's Hospital experience ⬇️

scientific article published on July 1, 1997

Prevention of mental retardation in offspring of hyperphenylalaninemic mothers

scientific article published in December 1982

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

scientific article published on September 1, 1988

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

scientific article published on September 1, 1972

Pseudohypophosphatasia.

scientific article

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

scientific article

Quantitation of beta-thalassemia genes in Quebec immigrants of Mediterranean, southeast Asian, and Asian Indian origins

scientific article published in August 1991

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

scientific article published on March 1997

Realized and potential neutralization of mutant genes in man by nutritional selection

scientific article published on September 1, 1976

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

scientific article published in December 2007

Recommendations of the 2006 Human Variome Project meeting

scientific article published in April 2007

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

scientific article published on January 1995

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

scientific article published on May 1990

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 ⬇️

scientific article published on September 1, 1978

Renal transport of taurine adapts to perturbed taurine homeostasis

scientific article

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

scientific article

Renal tubular transport of proline, hydroxyproline, and glycine. II. Hydroxy-l-proline as substrate and as inhibitor in vivo ⬇️

scientific article

Reproduction démographique et transmission génétique dans le nord-est de la province de Québec (XVIIIe-XXe siècles)

journal article from 'European Journal of Population / Revue européenne de Démographie' published in 1988

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

scientific article published on July 1, 1975

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

scientific article published on February 1995

Science, medicine and phenylketonuria

scientific article published on December 1994

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

scientific article

Serum 1,25-Dihydroxyvitamin D Levels in Normal Subjects and in Patients with Hereditary Rickets or Bone Disease ⬇️

scientific article published on November 2, 1978

Significance of the fellowship examination for canadian medical scientists.

scientific article published on December 1966

Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews

scientific article published on January 1, 1992

Structural and Biochemical Characterization of the Therapeutic Anabaena variabilis Phenylalanine Ammonia Lyase

scientific article

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

scientific article published on 11 July 2005

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

scientific article published on 8 June 2007

Taurine transport in renal brush-border-membrane vesicles ⬇️

scientific article published on April 15, 1979

Tay-Sachs heterozygote screening: specificity and sensitivity

scientific article published on January 1, 1977

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

scientific article published on April 1, 1973

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

scientific article

The Nile in Canada: scientific outlook and society

scientific article published on February 1980

The PAH gene, phenylketonuria, and a paradigm shift

scientific article published on September 2007

The PAH mutation analysis consortium database: update 1996.

scientific article published on January 1997

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

scientific article published on May 1, 1979

The adolescent copes with genetic screening: a study of Tay-Sachs screening among high-school students

scientific article published on January 1, 1977

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

scientific article published on June 1, 1978

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

scientific article published on June 1985

The effect of Mendelian disease on human health: a measurement

scientific article published in June 1985

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

scientific article published in May 1973

The genetic medicine network in Quebec: An integrated program for diagnosis, counseling and treatment of hereditary metabolic diseases

scientific article published on March 1, 1975

The human biochemical genetics of amino acid transport ⬇️

scientific article

The human genome project will not replace the physician

scientific article published on December 2004

The hyperphenylalaninemias of man and mouse

scientific article published on January 1994

The in vivo use of dithiothreitol in cystinosis

scientific article published on February 1, 1977

The kidney in genetic disease.

scientific article

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

scientific article published on October 1967

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

scientific article published on January 1996

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

scientific article

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

scientific article published on January 1974

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

scientific article published in November 1972

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

scientific article

Treatment of inherited disease: realized and potential.

scientific article

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

scientific article published in October 1996

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

scientific article

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

scientific article

Vitamin B6 deficiency and dependency in man.

scientific article published in January 1967

Vitamin D dependency

scientific article published in March 1970

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

scientific article published on December 1, 1970

Vitamin-responsive inborn errors of metabolism

scientific article published in October 1973

Vitamins: an evolutionary perspective

scientific article published on January 1985

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

scientific article

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

scientific article

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

scientific article published on September 1982

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

scientific article published on January 1, 1992

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

scientific article

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

scientific article published on May 1, 1991

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

scientific article published in March 1981

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

scientific article

[Hereditary tyrosinemia and vitamin-dependent rickets in Saguenay. A genetic and demographic approach]

scientific article

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