Charles Scriver | Academic Influence

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Charles Scriver

Medical

#329

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#476

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Pediatrics

#7

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#10

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Charles Scriver

Biology

#1846

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#2995

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Neuroscience

#182

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#192

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Biochemistry

#169

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#217

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Biology

Charles Scriver's Degrees

Doctorate Medicine McGill University
PhD Biochemistry McGill University

Why Is Charles Scriver Influential?

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According to Wikipedia, Charles Robert Scriver was a Canadian pediatrician and biochemical geneticist. His work focused on inborn errors of metabolism and led in establishing a Canada-wide newborn metabolic screening program.

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Charles Scriver's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 (2001) (8146)
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) (2004) (1022)
Committee on Nutrition (1956) (544)
Phenylalanine hydroxylase deficiency (2011) (482)
Monogenic traits are not simple: lessons from phenylketonuria. (1999) (406)
A rapid procedure for extracting genomic DNA from leukocytes. (1991) (404)
Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. (1976) (399)
The hyperphenylalaninemia : phenylalanine hydroxylase deficiency (2001) (333)
The PAH gene, phenylketonuria, and a paradigm shift (2007) (318)
Commentary on breast-feeding and infant formulas, including proposed standards for formulas. (1976) (286)
Amino acid metabolism and its disorders. (1973) (253)
Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. (1978) (226)
Labile methyl group balances in the human: the role of sarcosine. (1980) (202)
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. (1997) (191)
SIGNIFICANCE OF HYPERMETHIONÆMIA IN ACUTE TYROSINOSIS (1968) (187)
Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia. (1972) (182)
A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. (1999) (180)
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. (1978) (174)
RECOMMENDATIONS ON THE DIETARY-MANAGEMENT OF PHENYLKETONURIA (1993) (171)
Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools. (1996) (171)
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. (2004) (169)
Loss of a Parathyroid Hormone-Sensitive Component of Phosphate Transport in X-Linked Hypophosphatemia (1972) (157)
Thiamine-responsive maple-syrup-urine disease. (1971) (156)
PAHdb 2003: What a locus‐specific knowledgebase can do (2003) (150)
Age at Onset and Causes of Disease (2015) (139)
Familial hyperprolinemia, cerebral dysfunction and renal anomalies occurring in a family with hereditary nephropathy and deafness. (1962) (129)
The effect of Mendelian disease on human health: a measurement. (1985) (127)
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec. (2012) (125)
The Gy mutation: another cause of X-linked hypophosphatemia in mouse. (1986) (124)
Hyperparathyroidism as the Cause of Hyperaminoaciduia and Phosphaturia in Human Vitamin D Deficiency (1967) (124)
A "new" disorder of isoleucine catabolism. (1971) (122)
Serum Parathyroid Hormone in X-Linked Hypophosphatemia (1971) (121)
Human genetics: lessons from Quebec populations. (2001) (118)
Human Genetics: Lessons from Quebec Populations1 (2001) (117)
Phenylketonuria: epitome of human biochemical genetics (second of two parts). (1980) (112)
RENAL TUBULAR TRANSPORT OF PROLINE, HYDROXYPROLINE, AND GLYCINE IN HEALTH AND IN FAMILIAL HYPERPROLINEMIA. (1964) (111)
Hyper-beta-alaninemia associated with beta-aminoaciduria and gamma-aminobutyricaciduaia, somnolence and seizures. (1966) (108)
A private view of heterozygosity: eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in Montreal. (1984) (108)
Vitamin B6-dependency and infantile convulsions. (1960) (105)
Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria (2008) (105)
GM1‐gangliosidosis without chondrodystrophy or visceromegaly (1970) (101)
An Inherited Disorder of Isoleucine Catabolism Causing Accumulation of α-Methylacetoacetate and α-Methyl-β-hydroxybutyrate, and Intermittent Metabolic Acidosis (1973) (101)
The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients. (2001) (96)
NEONATAL FAMILIAL PRIMARY HYPERPARATHYROIDISM. (1964) (94)
PhenCode: connecting ENCODE data with mutations and phenotype (2007) (93)
APPLICATION OF A SIMPLE MICROMETHOD TO THE SCREENING OF PLASMA FOR A VARIETY OF AMINOACIDOPATHIES. (1964) (92)
PAHdb: A locus‐specific knowledgebase (2000) (91)
The defect in transcellular transport of phosphate in the nephron is located in brush-border membranes in X-linked hypophosphatemia (Hyp mouse model). (1978) (91)
In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function (1998) (87)
Normal plasma free amino acid values in adults: the influence of some common physiological variables. (1985) (86)
The frequency of genetic disease and congenital malformation among patients in a pediatric hospital. (1973) (85)
The vitamin B6 deficiency syndrome in human infancy: biochemical and clinical observations. (1963) (82)
X-linked hypophosphatemia: effect of calcitriol on renal handling of phosphate, serum phosphate, and bone mineralization. (1981) (81)
New Renal Tubular Amino-Acid Transport System and a New Hereditary Disorder of Amino-Acid Metabolism (1961) (79)
Thiamine-responsive lactice acidosis in a patient with deficient low-KM pyruvate carboxylase activity in liver. (1972) (79)
Knowledge about and attitudes toward genetic screening among high-school students: the Tay-Sachs experience. (1977) (78)
Transient tyrosinemia of the newborn: dietary and clinical aspects. (1967) (78)
Cost-benefit analysis of a thalassemia disease prevention program. (1985) (78)
Maple syrup urine disease: Interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination (1992) (77)
Rickets and the pathogenesis of impaired tubular transport of phosphate and other solutes. (1974) (77)
Nephrocalcinosis and its relationship to treatment of hereditary rickets. (1987) (76)
Iron balance and requirements in infancy. (1969) (75)
Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency. (1994) (74)
Heterogeneity in Genetic Control of Phenylalanine Metabolism in Man (1968) (74)
HARTNUP DISEASE: A GENETIC MODIFICATION OF INTESTINAL AND RENAL TRANSPORT OF CERTAIN NEUTRAL ALPHA-AMINO ACIDS. (1965) (72)
Hyperdibasicaminoaciduria: An Inherited Disorder of Amino Acid Transport[34] (1968) (72)
Hypophosphatemic nonrachitic bone disease: an entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance. (1977) (71)
Genetic aspects of renal tubular transport: diversity and topology of carriers. (1976) (70)
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). (1965) (70)
The hyperphenylalaninemias of man and mouse. (1994) (69)
Vitamin D dependency: an inherited postnatal syndrome with secondary hyperparathyroidism. (1970) (69)
The Hartnup phenotype: Mendelian transport disorder, multifactorial disease. (1987) (69)
Plasma amino acids: screening, quantitation, and interpretation. (1971) (67)
Structural and biochemical characterization of the therapeutic Anabaena variabilis phenylalanine ammonia lyase. (2008) (67)
Guidelines and recommendations for content, structure, and deployment of mutation databases (1999) (65)
Garrod’s Croonian Lectures (1908) and the charter ‘Inborn Errors of Metabolism’: Albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008 (2008) (64)
Response to Crystalline 1α-Hydroxyvitamin D3 in Vitamin D Dependency (1975) (64)
Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment. (2007) (62)
PAH Mutation Analysis Consortium Database: a database for disease- producing and other allelic variation at the human PAH locus (1996) (62)
Beta-thalassemia disease prevention: genetic medicine applied. (1984) (60)
Phenylketonuria due to phenylalanine hydroxylase deficiency: an unfolding story. Medical Research Council Working Party on Phenylketonuria. (1993) (60)
Renal tubular transport of proline, hydroxyproline, and glycine. 3. Genetic basis for more than one mode of transport in human kidney. (1968) (60)
The Birth Prevalence of PKU in Populations of European, South Asian and Sub‐Saharan African Ancestry Living in South East England (2007) (60)
Amino acid transport in mammalian kidney: Multiple systems for imino acids and glycine in rat kidney. (1970) (60)
Recommendations for locus‐specific databases and their curation (2008) (59)
Advocacy and compliance in genetic screening. Behavior of physicians and clients in a voluntary program of testing for the Tay-Sachs gene. (1974) (59)
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide (2006) (59)
Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria. (2005) (59)
Localization of the membrane defect in transepithelial transport of taurine by parallel studies in vivo and in vitro in hypertaurinuric mice. (1976) (59)
Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolites. (1976) (58)
Outcome of early and long-term management of classical maple syrup urine disease. (1981) (57)
Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations. (1990) (57)
Genetics and Medicine: an evolving relationship. (1978) (57)
Specificity of transport of neutral and basic amino acids in rat kidney. (1967) (56)
Every pediatrician a geneticist (1983): (with an evolutionary view of disease). (1984) (56)
Familial forms of vitamin D-resistant rickets revisited. X-linked hypophosphatemia and autosomal recessive vitamin D dependency. (1976) (56)
Mutation nomenclature: Nicknames, systematic names, and unique identifiers (1996) (55)
Amino Acid Transport in Kidney HETEROGENEITY OF α-AMINOISOBUTYRIC UPTAKE (1968) (55)
Taurine transport in renal brush-border-membrane vesicles. (1979) (55)
Vitamin D dependency. (1970) (55)
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. (1977) (55)
Magnetic resonance spectroscopy in Niemann-Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin. (1994) (54)
Quantitative analysis of branched-chain α-keto acids as their trimethylsilylated oximes (1973) (54)
Genetics and biochemistry of variant human phenotypes (1989) (54)
Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype. (2000) (54)
What young people think and do when the option for cystic fibrosis carrier testing is available. (1993) (53)
Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans. (1995) (53)
After the genome—the phenome? (2004) (52)
Microassay of inorganic sulfate in biological fluids by controlled flow anion chromatography. (1981) (52)
Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria. (2005) (52)
Plasma free amino acid values in normal children and adolescents. (1986) (52)
Renal transport of taurine adapts to perturbed taurine homeostasis. (1982) (52)
SYNTHESIS OF METHOTREXATE POLYGLUTAMATES IN CULTURED HUMAN CELLS (1977) (51)
X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney. (1990) (51)
Phenylketonuria and other phenylalanine hydroxylation mutants in man. (1980) (50)
GLUTAMIC ACID DECARBOXYLASE (GAD) IN MAMMALIAN TISSUE OUTSIDE THE CENTRAL NERVOUS SYSTEM, AND ITS POSSIBLE RELEVANCE TO HEREDITARY VITAMIN B6 DEPENDENCY WITH SEIZURES * (1969) (49)
A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia. (2000) (49)
Renal brush border membrane adaptation to phosphorus deprivation in the Hyp/Y mouse (1979) (49)
Science's neglected legacy (2000) (49)
Converting an injectable protein therapeutic into an oral form: phenylalanine ammonia lyase for phenylketonuria. (2010) (49)
INFANT METHEMOGLOBINEMIA: The Role of Dietary Nitrate (1970) (48)
Alkaline phosphatase activity does not mediate phosphate transport in the renal-cortical brush-border membrane. (1980) (48)
Branched-chain alpha-keto acids isolated as oxime derivatives: relationship to the corresponding hydroxy acids and amino acids in maple syrup urine disease. (1974) (47)
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases (1998) (47)
The effect of Mendelian disease on human health. II: Response to treatment. (1985) (47)
Phenylketonuria: epitome of human biochemical genetics (first of two parts). (1980) (46)
Analysis of Phenylalanine Hydroxylase Genotypes and Hyperphenylalaninemia Phenotypes Using L-[1-13C]Phenylalanine Oxidation Rates in Vivo: A Pilot Study1 (1997) (46)
Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics. (2002) (46)
Response to treatment in hereditary metabolic disease: 1993 survey and 10-year comparison. (1995) (46)
CHILDHOOD DIET AND CORONARY HEART DISEASE (1972) (45)
Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress (2000) (45)
A -aminobutyrate pathway in mammalian kidney cortex. (1973) (45)
Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbate. (1996) (44)
X-linked hypophosphataemic rickets: Inadequate therapeutic response to 1,25-dihydroxycholecalciferol. (1973) (44)
Audiometric evidence for two forms of X‐linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse (1987) (43)
Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes. (1998) (43)
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. (1994) (43)
Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria. (2018) (43)
Vitamin B6 deficiency and dependency in man. (1967) (42)
Monogenic traits are not simple (1999) (42)
Amino Acid Transport: Evidence for Genetic Control of Two Types in Human Kidney (1967) (42)
Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria. (1992) (41)
Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria. (2011) (41)
Novel PKU mutation on haplotype 2 in French-Canadians. (1989) (41)
The ontogeny of amino acid transport in rat kidney. I. Effect on distribution ratios and intracellular metabolism of proline and glycine. (1971) (41)
Uptake and metabolism of beta-alanine and L-carnosine by rat tissues in vitro: role in nutrition. (1976) (41)
Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria. (2007) (39)
Hereditary tyrosinemia and tyrosyluria in a French Canadian geographic isolate. (1967) (39)
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. (1979) (39)
Age-dependent serum sulfate levels in children and adolescents. (1980) (38)
GLYCYL-PROLINE IN URINE OF HUMANS WITH BONE DISEASE. (1964) (38)
Expression and molecular analysis of mutations in prolidase deficiency. (1996) (37)
The PAH mutation analysis consortium database: update 1996 (1997) (37)
Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine (1988) (37)
Whatever happened to PKU? (1995) (37)
Detection of heterozygotes for recessive alleles. Homocyst(e)inemia: paradigm of pitfalls in phenotypes. (1990) (36)
Serum parathyroid hormone levels in acquired vitamin D deficiency of infancy. (1972) (36)
Cystinuria: increased prevalence in patients with mental disease. (1970) (36)
COMMITTEE ON NUTRITION: THE RELATION BETWEEN INFANTILE HYPERCALCEMIA AND VITAMIN D—PUBLIC HEALTH IMPLICATIONS IN NORTH AMERICA (1967) (35)
Prolidase deficiency: biochemical classification of alleles. (1989) (35)
A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism. (2008) (35)
The Effect of Intravenous Glucagon on Plasma Amino Acids in the Newborn (1973) (35)
Hyperparathyroidism as the cause of hyperaminoaciduria and phosphaturia in human vitamin D deficiency. (1967) (35)
Primary cultures of renal epithelial cells from X-linked hypophosphatemic (Hyp) mice express defects in phosphate transport and vitamin D metabolism. (1988) (35)
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. (2000) (34)
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe (2003) (34)
The ontogeny of amino acid transport in rat kidney. II. Kinetics of uptake and effect of anoxia. (1971) (34)
Renal adaptation to phosphate deprivation in the Hyp mouse with X-linked hypophosphatemia. (1979) (33)
Ontogeny modifies manifestations of cystinuria genes: implications for counseling. (1985) (33)
Accelerated selective short column chromatography of neutral and acidic amino acids on a beckman-spinco analyzer, modified for simultaneous analysis of two samples (1967) (33)
On the application of knowledge to the patient with genetic disease. (1973) (33)
What we know that could influence future treatment of phenylketonuria (2009) (32)
Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of tay‐sachs disease gene carriers among Ashkenazic Jews (1992) (32)
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH) (1998) (31)
Lysinuric protein intolerance mutation is expressed in the plasma membrane of cultured skin fibroblasts. (1987) (31)
In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus (1992) (31)
The application of an automated hexosaminidase assay to genetic screening. (1974) (31)
Effect of 1,25-dihydroxyvitamin D3 on phosphate homeostasis in the X-linked hypophosphatemic (Hyp) mouse. (1981) (31)
Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant. (1972) (31)
Ontogeny of iminoglycine transport in mammalian kidney. (1970) (31)
Parathyroid-dependent phosphaturia and aminoaciduria in the vitamin D-deficient rat. (1968) (30)
Cystic fibrosis genotypes and views on screening are both heterogeneous and population related. (1992) (30)
Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations. (1994) (30)
Parental origin of mutant allele does not explain absence of gene dose in X-linked Hyp mice. (1993) (30)
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. (1971) (30)
Four novel PEPD alleles causing prolidase deficiency. (1994) (29)
Results of mass screening for hyperaminoacidemias in the newborn infant. (1969) (29)
Vitamin-responsive inborn errors of metabolism. (1973) (29)
URINARY VITAMIN B6 AND 4-PYRIDOXIC ACID IN HEALTH AND IN VITAMIN B6 DEPENDENCY. (1965) (29)
Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3. (1981) (28)
HYPOPHOSPHATEMIC RICKETS WITH RENAL HYPER-GLYCINURIA, RENAL GLUCOSURIA, AND GLYCYL-PROLINURIA. A SYNDROME WITH EVIDENCE FOR RENAL TUBULAR SECRETION OF PHOSPHORUS. (1964) (28)
Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria (1999) (28)
Cystic fibrosis carrier screening by DNA analysis: a pilot study of attitudes among participants. (1991) (27)
X-linked hypophosphatemia: an appreciation of a classic paper and a survey of progress since 1958. (1991) (27)
Ornithine Loading Did Not Prevent Induced Hyper ammonemia in a Patient with Hyperornithinemia- Hyperammonemia-Homocitrullinuria Syndrome (1985) (27)
Feasibility of chemical screening of urine for neuroblastoma case finding in infancy in Quebec. (1987) (26)
The phenylalanine hydroxylase locus: a marker for the history of phenylketonuria and human genetic diversity. PAH Mutation Analysis Consortium. (1996) (26)
Properties of hair keratin in an autosomal dominant form of ectodermal dysplasia. (1972) (25)
Management of hereditary metabolic disease. The role of allied health personnel. (1971) (25)
Phenylketonuria--genotypes and phenotypes. (1991) (25)
Orthophosphate transport in the erythrocyte of normal subjects and of patients with X-linked hypophosphatemia. (1975) (25)
Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience (1998) (25)
Megavitamin Therapy for Childhood Psychoses and Learning Disabilities (1976) (24)
Nutrient-gene interactions: the gene is not the disease and vice versa. (1988) (24)
Hereditary tyrosinemia and tyrosyluria: clinical report of four patients. (1967) (24)
A microassay for analysis of serum sulfate. (1979) (24)
The human biochemical genetics of amino acid transport. (1969) (24)
Cystathioninuria and renal iminoglycinuria in a pedigree. (1968) (23)
Properties of γ-aminobutyric acid synthesis by rat renal cortex (1982) (23)
American Academy of Pediatrics Committee on Genetics: New issues in newborn screening for phenylketonuria and congenital hypothyroidism. (1982) (23)
Abnormalities of tryptophan metabolism in a patient with malabsorption syndrome. (1961) (23)
So-called thiamin-responsive maple syrup urine disease: 15-year follow-up of the original patient. (1985) (23)
Glutaric acidemia type II: neuroimaging and spectroscopy evidence for developmental encephalomyopathy. (1995) (23)
Human genetics of membrane transport with emphasis on amino acids. (1970) (23)
The in Vivo Use of Dithiothreitol in Cystinosis (1977) (23)
Screening for Congenital Metabolic Disorders in the Newborn Infant: Congenital Deficiency of Thyroid Hormone and Hyperphenylalaninemia (1977) (22)
The Canadian Rutherford Lecture - An evolutionary view of disease in man (1984) (22)
On the screening, diagnosis and investigation of hereditary aminoacidopathies. (1973) (22)
Metabolism of methylmalonic acid in rats. Is methylmalonyl-coenzyme a racemase deficiency symptomatic in man? (1983) (22)
Intestinal transport of phosphate anion is not impaired in the Hyp (hypophosphatemic) mouse. (1981) (22)
Garrod's foresight; our hindsight (2001) (22)
Abnormalities of Carbohydrate Metabolism in Idiopathic Fanconi Syndrome (1980) (22)
3-Methylglutaconic aciduria: A marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a ‘new’ type (‘type 4’) (1992) (22)
Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations. (1994) (21)
Inorganic sulfate in cerebrospinal fluid from infants and children. (1982) (21)
Beta-thalassemia genes in French-Canadians: haplotype and mutation analysis of Portneuf chromosomes. (1990) (21)
The phenotypic manifestations of hereditary tyrosinemia and tyrosyluria: a hypothesis. (1967) (21)
Dominantly Inherited Osteogenesis Imperfecta in Man: An Examination of Collagen Biosynthesis (1975) (21)
Special Diets for Infants With Inborn Errors of Amino Acid Metabolism (1976) (21)
An evolutionary view of disease in man (1984) (21)
Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia. (1983) (21)
Prevention of mental retardation in offspring of hyperphenylalaninemic mothers. (1982) (21)
Topology of membrane exposure in the renal cortex slice. Studies of glutathione and maltose cleavage. (1982) (21)
Is hereditary histidinaemia harmful? (1974) (21)
Stable isotope dilution assay for branched chain alpha-hydroxy-and alpha-ketoacids: serum concentrations for normal children. (1986) (20)
FLUORIDE AS A NUTRIEN (1972) (20)
Oral findings in patients with autosomal dominant hypophosphatemic bone disease and X-linked hypophosphatemia: further evidence that they are different diseases. (1988) (20)
A perimortem protocol for suspected genetic disease. (1983) (20)
Diagnosis and treatment: interpreting the positive screening test in the newborn infant. (1967) (20)
Inborn errors of amino-acid metabolism. (1969) (18)
Ontogeny of Amino Acid Reabsorption in Human Kidney. Evidence from the Homozygous Infant with Familial Renal Iminoglycinuria for Multiple Proline and Glycine Systems (1979) (18)
X-linked hypophosphatemia. A phenotype in search of a cause. (1992) (18)
Genetic and Metabolic Disease in Pediatrics (1985) (18)
X-linked hypophosphataemia: A homologous phenotype in humans and mice with unusual organ-specific gene dosage (1992) (18)
Associations between populations, phenylketonuria mutations and RFLP haplotypes at the phenylalanine hydroxylase locus: an overview (1993) (18)
Conserved loci on the X chromosome confer phosphate homeostasis in mice and humans. (1990) (17)
Should Milk Drinking by Children Be Discouraged (1974) (17)
SCREENING NEWBORNS FOR HEREDITARY METABOLIC DISEASE. (1965) (17)
Letter: Plasma-csf glycine ratio in normal and nonketotic hyperglycinemic subjects. (1975) (17)
A gamma-aminobutyric acid-specific transport mechanism in mammalian kidney. (1985) (17)
Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: Intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus (1992) (17)
Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia. (2001) (17)
The Education of Citizens: Human Genetics. (1978) (17)
Transport and metabolism of sarcosine in hypersarcosinemic and normal phenotypes. (1971) (17)
New approaches to treat PKU: how far are we? (2004) (17)
Membrane transport in disorders of imino-acid metabolism. (1967) (16)
The relationship of 4-aminobutyric acid metabolism to ammoniagenesis in renal cortex. (1980) (16)
Vitamin B 6 dependency syndromes: their larger significance. (1966) (16)
Mutants: consumers with special needs. (2009) (16)
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 (1973) (16)
Decreased transport in renal basolateral membrane vesicles from hypertaurinuric mice. (1988) (16)
A molecular abnormality of keratin in ectodermal dysplasia (1965) (16)
Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice. (2004) (15)
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response? (2012) (15)
Histidinaemia. Part I: Reconciling retrospective and prospective findings (1983) (15)
Methylmalonic acidemia with a severe chemical but benign clinical phenotype. (1993) (15)
COMMITTEE ON NUTRITION OBESITY IN CHILDHOOD (1967) (15)
An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis. (1973) (14)
Journal of Inherited Metabolic Disease (1991) (14)
Treatment of inherited disease: realized and potential. (1969) (14)
Role of epithelial architecture and intracellular metabolism in proline uptake and transtubular reclamation in PRO/re mouse kidney. (1975) (14)
Histidinemia discovered by urine screening after renal transplantation. (1970) (13)
Assessing Genetic Risks: Implications for Health and Social Policy (1995) (13)
Neonatal hypertyrosinemia and evidence for deficiency of ascorbic acid in Arctic and subarctic peoples. (1975) (13)
The characterization of hereditary abnormalities of keratin: Clouston's ectodermal dysplasia. (1971) (13)
HYPERMETHIONINÆMIA IN ACUTE TYROSINOSIS (1966) (13)
Primary hyperparathyroidism and hyperaminoaciduria. (1972) (13)
Is there treatment for "genetic" disease? (1999) (12)
Hypertaurinuria in the C57BL/6J mouse: altered transport at the renal basolateral membrane. (1983) (12)
A filter paper sampling method for the uric acid:creatinine ratio in urine. Normal values in the the newborn. (1972) (12)
Prediction of multiple hypermutable codons in the human PAH gene: Codon 280 contains recurrent mutations in Quebec and other populations (1997) (11)
Aminoaciduria in vitamin D-deficiencyrickets and in disturbances of parathyroid function (1964) (11)
The last day of the past is the first day of the future: Transitional care for genetic patients. (2004) (11)
An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria. (1998) (11)
Mutation analysis in metabolic (and other genetic) disease: how soon, how useful (2000) (11)
Alkaptonuria: such a long journey (1996) (11)
Neuroblastoma screening: the Canadian experience. (1989) (11)
Genetics: Voyage of Discovery for Everyman: (Presidential Address to The Society for Pediatric Research, April 29,1976, St. Louis, Missouri) (1976) (11)
Similarity of L-proline transport systems in kidney of the rat in-vitro, and of man in-vivo. (1968) (11)
SCREENING FOR NEUROBLASTOMA (1987) (11)
Proposed changes in Food and Drug Administration regulations concerning formula products and vitamin-mineral dietary supplements for infants. (1967) (11)
Secreted collagen ratios in normal human and osteogenesis imperfecta skin fibroblasts. (1983) (10)
Does hereditary metabolic disease modulate senescence and ageing? (2002) (10)
Community Genetics and Dignity in Diversity in the Quebec Network of Genetic Medicine (2006) (10)
Commentary on Breast-Feeding and Infant Formulas, Including Proposed Standards for Formulas (1976) (10)
Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis". (1980) (10)
Transport of L-proline and -aminoisobutyric acid in the isolated rat kidney glomerulus. (1971) (10)
Use of human genetic variation to study membrane transport of amino acids in kidney. (1969) (10)
NEONATAL IMINOGLYCINURIA: EVIDENCE THAT THE PROLINURIA ORIGINATES IN SELECTIVE DEFICIENCY OF TRANSPORT ACTIVITY IN THE PROXIMAL NEPHRON (1982) (10)
Initiation and characterization of primary mouse kidney epithelial cultures (1988) (10)
The salience of Garrod's ‘molecular groupings’ and ‘Inborn Factors in Disease’ (1989) (10)
VITAMIN D INTAKE AND THE HYPERCALCEMIC SYNDROME. (1965) (9)
Sulfate transport by mouse renal cortical slices does not represent uptake by brush-border membrane. (1984) (9)
Evaluation of metabolic pathway activity in cultured skin fibroblasts and blood leukocytes. (1977) (9)
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. (1973) (9)
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn (1989) (9)
Histidinaemia. Part III: Impact; a prospective study (1983) (9)
American Pediatric Society Presidential Address 1995: Disease, War, and Biology: Languages for Medicine—and Pediatrics (1995) (9)
American Academy of Pediatrics Committee on Nutrition: Nutritional management in hereditary metabolic disease. (1967) (9)
Measurement of skinfold thickness in childhood. (1968) (9)
X-linked hypophosphataemia and autosomal recessive vitamin D dependency: Models for the resolution of vitamin D refractory rickets (1976) (9)
Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytes (1988) (9)
Pyruvate carboxylase in human liver. Apparent loss of a component of catalytic activity in a form of lactic acidosis with hypoglycemia. (1974) (9)
Quantitation of phenylalanine and its trans-cinnamic, benzoic and hippuric acid metabolites in biological fluids in a single GC-MS analysis. (2007) (9)
Metabolic abnormalities in the idiopathic Fanconi syndrome: studies of carbohydrate metabolism in two patients. (1981) (9)
Neutral Amino Acid Transport in Pseudomonas fluorescens (1970) (9)
Five mutations at the PAH locus account for almost 90% of PKU mutations in French‐Canadians from eastern Quebec (1992) (8)
Amino Acid Transport: Evidence for Genetic Control of Two Types in Human Kidney (1967) (8)
We mean well: treatment of Mendelian disease. (1988) (8)
Predictive Medicine: a Goal for Genetic Screening* (1980) (8)
The urinary excretion of organic acids in man: A survey of a variety of metabolic disturbances by two-dimensional paper partition chromatography (1961) (8)
Transepithelial transport of phosphate anion in kidney. Potential mechanisms for hypophosphatemia. (1977) (8)
Genetic causes of chronic musculoskeletal disease in childhood are common. (1984) (8)
RENAL HYPOPHOSPHATAEMIA HAS SEVERAL MENDELIAN FORMS (1987) (8)
Screening, counselling and treatment of hereditary metabolic disease; a survey of resources in Canada. (1974) (8)
Familial hypophosphatemia: the dilemma of treatment. (1973) (7)
Identification of deletion and triple α-globin gene haplotypes in the Montreal β-thalassemia screening program : implications for genetic medicine (1990) (7)
Genetic screening, testing and treatment: How far can we go? (1996) (7)
Properties of gamma-aminobutyric acid synthesis by rat renal cortex. (1982) (7)
PKU and beyond: when do costs exceed benefits? (1974) (7)
The isolation and properties of a beta-alanine permeaseless mutant of Pseudomonas fluorescens. (1970) (7)
Genetic Defects in Membrane Transport Mechanisms (1970) (7)
Histidinaemia. Part II: Impact; a retrospective study (1983) (7)
Ontogeny of L-Glutamic Acid Decarboxylase and γ-Aminobutyric Acid Concentration in Human Kidney (1975) (7)
Proline transport into isolated rat glomeruli. (1970) (7)
Quantitation of beta-thalassemia genes in Quebec immigrants of Mediterranean, southeast Asian, and Asian Indian origins. (1991) (6)
Mendelian hyperphenylalaninemia. (1988) (6)
Population screening: report of a workshop. (1985) (6)
Apparent gastrointestinal origin of cis-4-hydroxycyclohexanecarboxylic acid. (1983) (6)
A Biomedical View of Enzyme Replacement Strategies in Genetic Disease (1977) (6)
Genetics and Mammalian Transport Systems (1985) (6)
[Hereditary tyrosinemia and vitamin-dependent rickets in Saguenay. A genetic and demographic approach]. (1985) (6)
Human genetics: schoolyard experiences. (1993) (6)
Translating knowledge into practice in the "post-genome" era. (2004) (6)
Genomics, mutations and the Internet: The naming and use of parts (1999) (6)
A behavior, growth and development course in first-year medicine. (1969) (6)
Oxidative Phosphorylation Diseases: Chapter 46. (1995) (6)
The Quebec Network of Genetic Medicine. (1987) (6)
Metabolism of ethylmalonate to mesaconate in the rat. Evidence for trans-dehydrogenation of methylsuccinate. (1983) (6)
Phenylketonuria and diet. (1968) (6)
Carrier screening for Tay-Sachs disease (1990) (6)
Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase (1987) (6)
Phenylketonuria: the glutamine hypothesis. (1970) (5)
Cases are not incidence and Vice Versa (1988) (5)
Improved detection of β-thalassaemia carriers by a two-test method (1977) (5)
X-linked hypophosphatemia in Hyp/Y mouse a model of the human disease. (1974) (5)
A Commentary on Multiple Screening for Aminoacidopathies in the Newborn Infant. (1965) (5)
Transport competence of plasma membrane vesicles from cultured human fibroblasts. (1985) (5)
The Alveolar Lining Layer : A Review of Studies on Its Role in Pulmonary Mechanics and in the Pathogenesis of Atelectasis (5)
Urine screening for disorders of mucopolysaccharide metabolism. (1969) (5)
Diets and genes: euphenic nutrition. (1977) (5)
Genetic screening and allied services: structure, process and objective (1977) (5)
On the heritability of rickets, a common disease (Mendel, mammals and phosphate). (1981) (5)
Window panes of eternity. Health, disease, and inherited risk. (1982) (4)
1 – Hereditary rickets (1982) (4)
Hypersarcosinemia: New Observations (1970) (4)
709 OUTCOME OF EARLY AND LONG-TERM MANAGEMENT OF CLASSICAL MAPLE SYRUP URINE DISEASE (1981) (4)
Prenatal Diagnosis for Pediatricians (1980) (4)
Henry Friesen Award Lecture. Work, the clinician-scientist and human biochemical genetics. (2001) (4)
A Pst+ Polymorphism in the HEXA Gene with an Unusual Geographic Distribution (1993) (4)
Allelic and Locus Heterogeneity (2006) (4)
Thiamine-dependent Neonatal Lactic Acidosis with Hyperalaninemia (1970) (4)
The adolescent copes with genetic screening: a study of Tay-Sachs screening among high-school students. (1977) (4)
Human genes: determinants of sick populations and sick patients. (1988) (4)
Mendelian hypophosphataemias as probes of phosphate and sulphate transport by mammalian kidney (1981) (4)
Amino acid transport in kidney. Heterogeneity of alpha-aminoisobutyric uptake. (1968) (4)
HYPOPHOSPHATEMIC RICKETS WITH RENAL HYPERGLYCINURIA, RENAL GLUCOSURIA, AND GLYCYL-PROLINURIA (1964) (3)
Response to crystalline 1alpha-hydroxyvitamin D3 in vitamin D dependency. (1975) (3)
Electron impact fragmentation pathway of the trimethylsilyl derivatives of ethylmalonic acid and two deuterium labelled analogues (1981) (3)
Screening for medical intervention: the PKU experience. (1982) (3)
Changing heritability of nutritional disease: another explanation for clustering. (1990) (3)
Letters to the EditorCARNOSINÆMIA (1968) (3)
The thalassemias and health care in Canada: a place for genetics in medicine. (1991) (3)
Tubular reabsorption of alpha-aminoisobutyric acid in the pre-steady-state. Evidence for a cell-to-lumen flux. (1980) (3)
GABA and Taurine What Are Metabolites Like This Doing in Places Like That (1982) (3)
Vitamin B12 dependency and cobalt-dependent metabolism. (1970) (3)
A new inherited defect of isoleucine catabolism (1971) (3)
Map, dictionary and directory of the human genome: reliable knowledge for research and couselling (1985) (3)
The human genome project will not replace the physician (2004) (3)
0-Thalassemia Disease Prevention: Genetic Medicine Applied (2006) (3)
Compliance factors in Tay-Sachs screening. (1977) (3)
Not preventing--yet, just avoiding Tay-Sachs disease. (2001) (3)
Comparative analysis of phenylalanine hydroxylase A104D mutant, associated with variant phenylketonuria, and wild-type enzyme. (1997) (3)
Net reabsorption of alpha-aminoisobutyric acid by rat kidney in vivo. (1979) (3)
Defective Biopterin Biosynthesis in a Chinese Infant (1986) (3)
NEONATAL TYROSINEMIA (NT) IN THE ESKIMO. RESULT OF A PROTEIN POLYMORPHISM? (1977) (3)
[Demographic reproduction and genetic transmission in the north-east of the province of Quebec (18th-20th centuries)]. (1988) (3)
718 EFFECT OF METHYLENE BLUE ON FIBROBLASTS IN LACTIC ACIDOSIS (1981) (3)
Physiological genetics--who needs it? (1987) (3)
Fertility in couples heterozygous for the tyrosinemia gene in Saguenay Lac-St-Jean. (1990) (3)
Realities and virtual realities of inborn errors of metabolism: biochemical genetics in the molecular genetic era. (1997) (3)
Effect of Calciotropic Hormones and Cyclic Nucleotides on Aminoaciduria and Phosphaturia (1980) (3)
In vitro Use of Polyethylene-(1,2-14C)-Glycol to Measure Extracellular Space in Renal Cortex Slices from Neonatal, Immature and Adult Mammals (1978) (3)
Cultured Human Fibroblasts and Plasma Membrane Vesicles to Investigate Transport Function and the Effects of Genetic Mutation a (1985) (3)
Carrier screening for Tay-Sachs disease (1990) (3)
More on newborn screening for phenylketonuria: recommendations of the Committee on Genetics. (1983) (2)
Avoiding phenylketonuria: why parents seek prenatal diagnosis. (1988) (2)
III. GENETIC BASIS FOR MORE THAN ONE MODE OF TRANSPORT IN HUMAN KIDNEY (1968) (2)
Effects on blood glucose, plasma insulin, growth hormone and alanine of different doses of glucagon on the first and third days of life. (1972) (2)
On being an individual, or: the man in the red hat. (1979) (2)
The effects of Mendelian mutation on renal sulfate and phosphate transport in man and mouse. (1984) (2)
Identification of deletion and triple alpha-globin gene haplotypes in the Montreal beta-thalassemia screening program: implications for genetic medicine. (1990) (2)
Inborn Errors of Metabolism: A New Frontier of Nutrition (1974) (2)
The William Allan Memorial Award address: On phosphate transport and genetic screening. "Understanding backward--living forward" in human genetics. (1979) (2)
Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts (1989) (2)
Quantitative analysis of branched-chain alpha-keto acids as their trimethylsilylated oximes. (1973) (2)
Osteogenesis imperfecta: a heterogeneous morphologic phenotype in cultured dermal fibroblasts (2004) (2)
Should Milk Drinking by Children Be Discouraged? (1974) (2)
Behaviour growth and development course, first year medicine McGill University. (1969) (2)
Vitamins: An evolutionary perspective (1985) (2)
Normal distributions of amino acids in body fluids. (1968) (2)
Isolation and Properties of a β-Alanine Transaminaseless Mutant of Pseudomonas fluorescens (1970) (2)
Ontogeny of L-glutamic acid decarboxylase and gamma-aminobutyric acid concentration in human kidney. (1975) (2)
Realized and potential neutralization of mutant genes in man by nutritional selection. (1976) (2)
Soundings at the PKU locus (1986) (2)
X-linked hypophosphatemic rickets: A PTH-insensitive transport effect responsive to phosphate (1971) (1)
A FILTER PAPER SAMPLING METHOD FOR THE URIC ACID:CREATININE RATIO IN URINE (1972) (1)
FOLATE COENZYMES IN METHYLENE-H4PTEGLU REDUCTASE (MR) DEFICIENT FIBROBLASTS (1977) (1)
Who do I serve? (2006) (1)
IN VIVO STUDIES OF 13C-PHENYLALANINE OXIDATION IN HYPERPHENYLALANINEMIA. • 876 (1996) (1)
Public and private views of identity: acceptance of the 1990 Ross Award. (1991) (1)
Significance of hypermethionaemia in acute tyrosinosis. (1968) (1)
Presidential Address: Physiological Genetics-Who Needs It?' (2006) (1)
Expression of GM1-gangliosidosis Types I and II in Fibroblast Cell Culture (1970) (1)
1599 IDENTIFICATION OF INTERMEDIATE FILAMENT AGGREGATES IN CULTURED SKIN FIBROBLASTS FROM PATIENTS WITH GIANT AXONAL NEUROPATHY (1981) (1)
AGE-DEPENDENT ACTIVITY OF L-GLUTAMIC ACID DECARBOXYLASE (GAD) IN HUMAN KIDNEY (1974) (1)
Mendelian Phenotypes as “Probes” of Renal Transport Systems for Amino Acids and Phosphate (2011) (1)
X-linked hypophosphatemic male mouse: evidence for a defect in the brush border membrane. (1978) (1)
Archibald Garrod and the Individuality of Man (1994) (1)
Hypophosphatemic rickets and breast milk. (1979) (1)
New experiences; old genes--lessons from the Mennonites. (1989) (1)
Effect of the X-linkedHyp mutation onN-ethylmaleimide labelling of proteins in renal brush border membrane (1987) (1)
Response from Ostrowsky, et al (1986) (1)
Improved detection of beta-thalassaemia carriers by a two-test method. (1977) (1)
Review by the Committee on Nutrition (1974) (1)
EFFECT OF 1,25(OH) 2 D 3 ON RENAL AND INTESTINAL TRANSPORT OF PHOSPHATE ANION IN Hyp MOUSE (1981) (1)
737 DITHIOTHREITOL (DTT) PROTECTS CYSTINOTIC FIBROBLASTS IN CYSTINE-FREE MEDIUM (1981) (1)
Ontogeny of Amino Acid Metabolism in Mammalian Kidney (1970) (1)
[The genetic medicine network in Quebec: An integrated program for diagnosis, counseling and treatment of hereditary metabolic diseases]. (1975) (1)
Questions to the Past That Resonate in the Present (1990) (1)
[Tay-Sachs disease: prenatal detection and diagnosis]. (1972) (1)
Ms. Clow and Dr. Scriver Reply (1977) (1)
Resources for nutritional treatment: basic principles and a national ‘Food Bank’ (1977) (1)
[The beta-thalassemia gene in French Canada: reappearance in Portneuf County]. (1988) (1)
James F. Crow, William F. Dove (Editors), Perspectives on GENETICS: Anecdotal, historical and critical commentaries – 1987–1998 (2000) (1)
Norman John Berrill. 28 April 1903 — 15 October 1996 (1999) (1)
Teaching of Behavior, Growth and Development in the Preclinical Years: McGill University (1971) (1)
Multiple amino acid carrier systemsin plasma membranes: Genetic implications (1964) (1)
Letter: Parathyroid hormone secretion in X-linked hypophosphatemia. (1974) (1)
HUMAN GENETICS: Lessons from (2001) (0)
The American Pediatric Society, Inc. and The Society for Pediatric Research (1972) (0)
Child health, the genome project and phenylketonuria. (1993) (0)
And Know the Place for the First Time * * Previously presented at the annual meeting of The Americ (2002) (0)
The principles of human biochemical genetics. By Harry Harris. North-Holland, Amsterdam; American Elsevier, New York. 328 pp. 1970 (1972) (0)
Biochemical methods in medical genetics, S. Kelly, PhD, MD, American Lecture Series, Charles C Thomas, Springfield, Illinois, 1977, 345+xi pp. 28 illust., 14 in color, $17.50 (1977) (0)
730 CHARACTERIZATION OF TWO GOLGI GALACTOSYLTRANSFERASE ISOZYMES WHICH CATALYZE THE BIOSYNTHESIS OF Gm GANGLIOSIDE (1981) (0)
41 PREDICTION AND PREVENTION OF MATERNAL PHENYLKETONURIA (mPKU) WITH A REGISTRY (1981) (0)
Should Milk Drinking by Children (2006) (0)
MINIREVIEW Is There Treatment for "Genetic" Disease? 1 (1999) (0)
Plasma amino acids : screening , quantitation , and interpretation ” 2 (2005) (0)
[Genetics in medicine: the 5th decade in Québec]. (1993) (0)
TRANSEPITHELIAL TRANSPORT OF L-PROLINE IN THE BLOCKED CATABOLIC MUTANT PRO/Re (HYPERPROLINEMIC) MOUSE (1974) (0)
Crystal structure of phenylalanine ammonia-lyase from yeast Rhododporidium toruloides (2005) (0)
A worldwide collaboration to capture all human mutations (2002) (0)
Degradation rates differ between mutant and wild-type forms of phenylalanine hydroxylase expressed in vitro. (1998) (0)
Howland Award Presentation to Barton Childs (1989) (0)
Isozymes: Current topics in biological and medical research, volumes 1 and 2. Mario C. Rattazzi, John G. Scandalios, and Gregory S. Whitt (eds). New York: Alan R. Liss, 1977, Vol 1, 204 pp, $16; Vol 2, 176 pp, $14 (1979) (0)
Encomium to accompany “Of Mice and Children: Reminiscences of a Teratogeneticist” (2008) (0)
1491 ELEVATED SERUM SULFATE (SO4) AFTER l, 25-(OH)2D3 TREATMENT: A MARKER FOR DECREASED GLOMERULAR FILTRATION (GF) WITH HYPERCALCEMIA? (1981) (0)
246 A STUDY 0F THE STRUCTURAL AND BIOCHEMICAL DEVELOPMENT OF HUMAN FETAL ISLETS OF LANGERHANS (1981) (0)
IMPROVED DETECTION OF β-THALASSEMIA HETEROZYGOTES USING TWO TESTS TOGETHER (1977) (0)
TRANSPORT AND METABOLISM OF L-CARNOSINE AND BETA-ALANINE IN KIDNEY CORTEX SLICES OF THE RAT (1975) (0)
Letter: Screening for Tay-Sachs disease. (1974) (0)
1490 ADAPTATION OF RENAL SULFATE (SO4) REABSORPTION TO SULFUR INTAKE (1981) (0)
Metabolism ofMethylmalonic AcidinRats (1983) (0)
The biology of death: Origins of mortality (2004) (0)
Erratum: (Mammalian Genome (1996) 7:9 (2465-2494)) (1997) (0)
ONTOGENY OF AMINO ACID REABSORPTION IN MAMMALIAN KIDNEY, THE PROLINE MODEL (1981) (0)
2001 ASHG Award for Excellence in Education. ... And know the place for the first time. (2002) (0)
Crystal structure of phenylalanine hydroxylase A313T mutant with 7,8-dihydrobiopterin bound (2004) (0)
Cystathioninuria, renal iminoglycinuria and...alpha 1-antitrypsin...deficiency in the same family: relevance in medical practice. (1979) (0)
Carrier Screening of Adolescents in Montreal (2006) (0)
Letters to the Editor (1965) (0)
IV. ASHG activities relative to human genetics education: How the annual meeting changes the teaching of medicine. (1987) (0)
COMMITTEE ON NUTRITION: ROBERT R. WILLIAMS, A MEMORIAL NOTE (1966) (0)
Genetic science and education: attacks on ignorance: introduction to the education workshop. (1993) (0)
1992 Genetics Society of Canada Award of Excellence Lecture: Genes, science, and society. (1993) (0)
Garrod's legacy to the nations of mice and men. (1981) (0)
Magnetic Resonance Spectroscopy in Niemann-Pick Type C: Corrdation With Di is Clinical Response to Ch styramine and Lovas tin (1994) (0)
Effect of the X-linked Hyp mutation on N-ethylmaleimide labelling of proteins in renal brush border membrane. (1987) (0)
'Lysenkoism is not what Canada needs'. (1974) (0)
Workshop on amino acid metabolism. (1982) (0)
The use of cell and organ culture methods to study renal birth defects. (1980) (0)
Congress Committee (1963) (0)
Letter: Screening for hereditary metabolic disease. (1975) (0)
Polymorphic haplotypes on R408BW PKU and normal PAH chromosomes in Quebec and European populations (1994) (0)
1111 URINARY EXCRETION OF γ-CARBOXYGLUTAMIC ACID (GLA) IN X-LINKED HYPOPHOSPHATEMIA (XLH) AND AUTOSOMAL RECESSIVE VITAMIN D DEPENDENCY (ARVDD) (1981) (0)
American Pediatric Society's 2010 John Howland Award Acceptance Lecture: Some Things Considered (2011) (0)
INFANT METHEMOGLOBINEMIA (1970) (0)
Mary L. Efron, MD (1969) (0)
Molecular aspects of human disease: 2 volumes J.W. Gorrod, O. Albano, S. Papa, Ellis Horwood, eds. Chichester, UK, John Wiley and Sons, 1989 (279 pp) ISBN 0-47021298-5; (284 pp) ISBN 0-470-21303-5 (1990) (0)
Unexplained serum anion gap. (1981) (0)
Principles of Medical Genetics (1990) (0)
Garrod's inborn factors in disease : including an annotated facsimile reprint of The inborn factors of disease by Archibald E. Garrod (1989) (0)
METABOLIC: AUTOSOMAL HYPOPHOSPHATAEMIC BONE DISEASE RESPONDS TO 1,25-(OH)2D3 (1981) (0)
Editorial help (2004) (0)
The prevention and avoidance of genetic disease (1989) (0)
Significance of the fellowship examination for canadian medical scientists. (1966) (0)
After the genomethe phenome? y (2004) (0)
74 Hyperexcretion of Urinary Amino Acids and Phosphorus in the Vitamin D-Deficient Holtzman Rat (1967) (0)
Genetic causes of deviant metabolism. What do we know? What can we do? (1985) (0)
Testicular feminization: Expression in sex skin fibroblast culture (1971) (0)
193 THE USE OF ONTOGENY AND MUTATION TOGETHER TO DEFINE THREE RENAL TRANSPORT SYSTEMS FOR PROLINE AND GLYCINE IN MAN (1978) (0)
X-LINKED HYPOPHOSPHATEMIA IN Hyp/Y MOUSE. A MODEL OF THE HUMAN DISEASE (1974) (0)
COMMITTEE ON NUTRITION BABY FOOD AS SPECIAL DIETARY FOODS (1967) (0)
Cholesterol metabolism, LDL and the LDL receptor By N. B. Myant. New York: Academic Press. (1990). 465 pp. $69.95 (1991) (0)
Inborn errors of membrane transport: mechanisms and implications for treatment. (1979) (0)
International food and nutrition programs. (1970) (0)
Absence of vitamin D in nonfat dry milk. (1967) (0)
Demonstration of a defect in the matrix fraction of keratin in Clouston's ectodermal dysplasia (1971) (0)
Book Review / Author Index / Subject Index (1983) (0)
Autosomal hypophosphataemic bonedisease responds (1981) (0)
Tay–Sachs disease (2000) (0)
CYSTINOTIC AND NORMAL FIBROBLASTS: DIFFERENTIAL PROTECTION IN CYSTINE-FREE MEDIUM BY DITHIOTHREITOL (1982) (0)
1184 PERSISTANCE OF THE DEFECT IN RENAL BRUSH-BORDER MEMBRANE PHOSPHATE TRANSPORT IN 1α,25-(OH)2 VITAMIN D3 (l,25-(OH)2D3)-TREATED X-LINKED HYPOPHOSPHATEMIA (1981) (0)
Tay-Sachs heterozygote screening: specificity and sensitivity. (1977) (0)
2015 Victor A. McKusick Leadership Award. (2016) (0)
Dosage compensation among odontoblasts in x linked hypophosphatemic rickets (1988) (0)
HYPOPHOSPHATEMIC BONE DISEASE (HBD) OF CHILDHOOD; A “NEW” ENTITY (1977) (0)
[Biologic basis of the sensitivity of rickets to vitamin D]. (1971) (0)
Internship liaison with the United States. (1954) (0)
630 RENAL RESPONSE TO ESSENTIAL AMINO ACID DEPRIVATION: ADAPTATION OF TAURINE (TAU) TRANSPORT (1981) (0)
Animal models of inherited metabolic diseases. (1983) (0)
The nephrotic syndrome. (1954) (0)
The Oxford Medical Companion (1995) (0)
AND OTHER PHENYLALANINE HYDROXYLATION MUTANTS IN MAN (1980) (0)
The Nile in Canada: scientific outlook and society. (1980) (0)
Crystal structure of double truncated human phenylalanine hydroxylase BH4-responsive PKU mutant A313T. (2004) (0)
The kidney in genetic disease (1987) (0)
565 A BRUSH BORDER MEMBRANE DEFECT IN PHOSPHATE TRANSPORT I IN X-LINKED HYPOPHOSPHATEMIA (1978) (0)
Book review (1985) (0)
Genetic Screening (2019) (0)
Protection of the infant diet: government and industry. (1965) (0)
Genetic disease: effects on human health. (1992) (0)
Neutral AminoAcidTransport in Pseudomonas fluorescens (1970) (0)
Ontogeny of amino acid transport sites in kidney (1971) (0)
Thin-layer chromatography assay of the branched-chain 2-oxo-acid dehydrogenase complex(es). (1977) (0)

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McGill University