Published in Science on March 03, 1972
Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc Natl Acad Sci U S A (1976) 2.59
Evidence for an intrinsic renal tubular defect in mice with genetic hypophosphatemic rickets. J Clin Invest (1979) 1.08
Impaired phosphorus conservation and 1,25 dihydroxyvitamin D generation during phosphorus deprivation in familial hypophosphatemic rickets. J Clin Invest (1983) 0.96
Effects of volume expansion, purified parathyroid extract, and calcium on renal bicarbonate absorption in the dog. J Clin Invest (1974) 0.95
X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney. Am J Hum Genet (1990) 0.93
Effect of 1,25-dihydroxyvitamin D3 on the renal handling of Pi in thyroparathyroidectomized rats. J Clin Invest (1977) 0.92
The acute effect of 25-hydroxycholecalciferol on renal handling of phosphorus. Evidence for a parathyroid hormone-dependent mechanism. J Clin Invest (1974) 0.91
Deformity correction in children with hereditary hypophosphatemic rickets. Clin Orthop Relat Res (2008) 0.91
Gene mapping of mineral metabolic disorders. J Inherit Metab Dis (1989) 0.88
Exaggerated phosphaturic response to circulating parathyroid hormone in patients with familial X-linked hypophosphatemic rickets. J Clin Invest (1976) 0.87
Evidence for a parathyroid hormone-independent calcium modulation of phosphate transport along the nephron. J Clin Invest (1976) 0.87
Effect of volume expansion on sodium excretion in the presence and absence of increased delivery from superficial proximal tubules. J Clin Invest (1973) 0.83
Orthophosphate transport in the erythrocyte of normal subjects and of patients with X-linked hypophosphatemia. J Clin Invest (1975) 0.83
A micropuncture study of renal phosphate transport in rats with chronic renal failure and secondary hyperparathyroidism. J Clin Invest (1978) 0.79
Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3. Arch Dis Child (1981) 0.79
Modulation of phosphate absorption by calcium in the rabbit proximal convoluted tubule. J Clin Invest (1985) 0.77
Rickets. West J Med (1976) 0.75
The William Allan Memorial Award address: On phosphate transport and genetic screening. "Understanding backward--living forward" in human genetics. Am J Hum Genet (1979) 0.75
A rapid procedure for extracting genomic DNA from leukocytes. Nucleic Acids Res (1991) 3.89
Advocacy and compliance in genetic screening. Behavior of physicians and clients in a voluntary program of testing for the Tay-Sachs gene. N Engl J Med (1974) 3.47
Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc Natl Acad Sci U S A (1976) 2.59
The use of biochemical data in screening for mutant alleles and in genetic counselling. Ann Hum Genet (1974) 2.43
Knowledge about and attitudes toward genetic screening among high-school students: the Tay-Sachs experience. Pediatrics (1977) 2.29
Beta-thalassemia disease prevention: genetic medicine applied. Am J Hum Genet (1984) 2.27
The frequency of genetic disease and congenital malformation among patients in a pediatric hospital. Can Med Assoc J (1973) 2.22
The effect of Mendelian disease on human health: a measurement. Am J Med Genet (1985) 2.18
Transient tyrosinemia of the newborn: dietary and clinical aspects. Pediatrics (1967) 2.15
Screening, counselling and treatment of hereditary metabolic disease; a survey of resources in Canada. Can Med Assoc J (1974) 2.11
A private view of heterozygosity: eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in Montreal. Am J Med Genet (1984) 2.04
Cost-benefit analysis of a thalassemia disease prevention program. Am J Public Health (1985) 1.99
The HUGO Mutation Database Initiative. Science (1998) 1.95
Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools. Am J Hum Genet (1996) 1.94
Carrier screening for Tay-Sachs disease. Lancet (1990) 1.92
On the application of knowledge to the patient with genetic disease. Prog Med Genet (1973) 1.84
Science's neglected legacy. Nature (2000) 1.77
Proof of "disease causing" mutation. Hum Mutat (1998) 1.68
What young people think and do when the option for cystic fibrosis carrier testing is available. J Med Genet (1993) 1.68
Genetics and Medicine: an evolving relationship. Science (1978) 1.65
Recommendations for locus-specific databases and their curation. Hum Mutat (2008) 1.49
Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia. N Engl J Med (1972) 1.46
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. Kidney Int (1978) 1.45
The defect in transcellular transport of phosphate in the nephron is located in brush-border membranes in X-linked hypophosphatemia (Hyp mouse model). Can J Biochem (1978) 1.45
Neonatal hypertyrosinemia and evidence for deficiency of ascorbic acid in Arctic and subarctic peoples. Can Med Assoc J (1975) 1.42
Novel PKU mutation on haplotype 2 in French-Canadians. Am J Hum Genet (1989) 1.40
Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. N Engl J Med (1978) 1.40
[Tay-Sachs disease: prenatal detection and diagnosis]. Union Med Can (1972) 1.36
Labile methyl group balances in the human: the role of sarcosine. Metabolism (1980) 1.34
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). Pediatrics (1965) 1.34
Phenylketonuria: epitome of human biochemical genetics (first of two parts). N Engl J Med (1980) 1.30
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. Prog Clin Biol Res (1977) 1.30
Use of dithiothreitol to correct cystine storage in cultured cystinotic fibroblasts. Lancet (1970) 1.30
Thiamine-responsive maple-syrup-urine disease. Lancet (1971) 1.29
Familial cold urticaria. Clin Exp Dermatol (1993) 1.29
Hyperparathyroidism as the cause of hyperaminoaciduria and phosphaturia in human vitamin D deficiency. Pediatr Res (1967) 1.29
Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations. Am J Hum Genet (1990) 1.28
Phenylketonuria and other phenylalanine hydroxylation mutants in man. Annu Rev Genet (1980) 1.27
Management of hereditary metabolic disease. The role of allied health personnel. N Engl J Med (1971) 1.26
A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc Natl Acad Sci U S A (1999) 1.25
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. Am J Hum Genet (1997) 1.25
Serum parathyroid hormone in X-linked hypophosphatemia. Science (1971) 1.22
Outcome of early and long-term management of classical maple syrup urine disease. Pediatrics (1981) 1.22
PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus. Nucleic Acids Res (1996) 1.21
The characterization of hereditary abnormalities of keratin: Clouston's ectodermal dysplasia. Birth Defects Orig Artic Ser (1971) 1.20
Diagnosis and treatment: interpreting the positive screening test in the newborn infant. Pediatrics (1967) 1.20
Heterogeneity in genetic control of phenylalanine metabolism in man. Nature (1968) 1.19
Prevention of mental retardation in offspring of hyperphenylalaninemic mothers. Am J Public Health (1982) 1.19
Branched-chain alpha-keto acids isolated as oxime derivatives: relationship to the corresponding hydroxy acids and amino acids in maple syrup urine disease. Metabolism (1974) 1.18
Cystic fibrosis genotypes and views on screening are both heterogeneous and population related. Am J Hum Genet (1992) 1.17
Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis. Hum Genet (1986) 1.17
The application of an automated hexosaminidase assay to genetic screening. Clin Chim Acta (1974) 1.15
X-linked hypophosphatemia: effect of calcitriol on renal handling of phosphate, serum phosphate, and bone mineralization. J Clin Endocrinol Metab (1981) 1.15
Results of mass screening for hyperaminoacidemias in the newborn infant. Am J Dis Child (1969) 1.14
The Gy mutation: another cause of X-linked hypophosphatemia in mouse. Proc Natl Acad Sci U S A (1986) 1.14
Mutation nomenclature: nicknames, systematic names, and unique identifiers. Hum Mutat (1996) 1.14
Normal plasma free amino acid values in adults: the influence of some common physiological variables. Metabolism (1985) 1.12
Phenylketonuria: epitome of human biochemical genetics (second of two parts). N Engl J Med (1980) 1.11
Amino acid transport in mammalian kidney: Multiple systems for imino acids and glycine in rat kidney. Am J Physiol (1970) 1.11
Age at onset and causes of disease. Perspect Biol Med (1986) 1.09
A prospective trial of phosphate and 1,25-dihydroxyvitamin D3 therapy in symptomatic adults with X-linked hypophosphatemic rickets. J Clin Endocrinol Metab (1992) 1.09
Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolites. Biochem J (1976) 1.08
Hereditary tyrosinemia and tyrosyluria: clinical report of four patients. Can Med Assoc J (1967) 1.08
Specificity of transport of neutral and basic amino acids in rat kidney. Am J Physiol (1967) 1.07
Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency. Pediatr Neurol (1994) 1.07
Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations. Hum Mol Genet (1994) 1.06
On the heritability of rickets, a common disease (Mendel, mammals and phosphate). Johns Hopkins Med J (1981) 1.06
Cystinuria: increased prevalence in patients with mental disease. N Engl J Med (1970) 1.06
Hereditary tyrosinemia and tyrosyluria in a French Canadian geographic isolate. Am J Dis Child (1967) 1.06
Hyperdibasicaminoaciduria: an inherited disorder of amino acid transport. Pediatr Res (1968) 1.05
Cystic fibrosis carrier screening by DNA analysis: a pilot study of attitudes among participants. Am J Hum Genet (1991) 1.05
Amino acid metabolism and its disorders. Major Probl Clin Pediatr (1973) 1.05
Renal tubular transport of proline, hydroxyproline, and glycine. 3. Genetic basis for more than one mode of transport in human kidney. J Clin Invest (1968) 1.05
A "new" disorder of isoleucine catabolism. Lancet (1971) 1.05
Improved detection of beta-thalassaemia carriers by a two-test method. Hum Genet (1977) 1.05
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function. Hum Mutat (1998) 1.05
Maple syrup urine disease: interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination. J Inherit Metab Dis (1992) 1.04
GM1-gangliosidosis without chondrodystrophy or visceromegaly. B-galactosidase deficiency with gangliosidosis and the excessive excretion of a keratan sulfate. Neurology (1970) 1.03
'Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec Province. Eur J Hum Genet (1993) 1.03
Bridging markers defining the map position of X linked hypophosphataemic rickets. J Med Genet (1987) 1.02
Renal adaptation to phosphate deprivation in the Hyp mouse with X-linked hypophosphatemia. Can J Biochem (1979) 1.02
Adolescent cystinosis: comparisons with infantile and adult forms. Pediatrics (1971) 1.01
Quantitation of beta-thalassemia genes in Quebec immigrants of Mediterranean, southeast Asian, and Asian Indian origins. Clin Invest Med (1991) 1.01
Plasma amino acids: screening, quantitation, and interpretation. Am J Clin Nutr (1971) 1.00
The adolescent copes with genetic screening: a study of Tay-Sachs screening among high-school students. Prog Clin Biol Res (1977) 1.00
The ontogeny of amino acid transport in rat kidney. I. Effect on distribution ratios and intracellular metabolism of proline and glycine. Biochim Biophys Acta (1971) 1.00
The Hartnup phenotype: Mendelian transport disorder, multifactorial disease. Am J Hum Genet (1987) 1.00
Amino acid transport in kidney. Heterogeneity of alpha-aminoisobutyric uptake. J Biol Chem (1968) 0.99
The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients. Mol Genet Metab (2001) 0.99
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. Am J Clin Nutr (1979) 0.98
X-linked hypophosphataemic rickets: Inadequate therapeutic response to 1,25-dihydroxycholecalciferol. Lancet (1973) 0.98
Metabolism of methylmalonic acid in rats. Is methylmalonyl-coenzyme a racemase deficiency symptomatic in man? J Clin Invest (1983) 0.97
An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis. Pediatr Res (1973) 0.97
The PAH mutation analysis consortium database: update 1996. Nucleic Acids Res (1997) 0.97
The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England. Ann Hum Genet (2008) 0.97
Is hereditary histidinaemia harmful? Lancet (1974) 0.97
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases. Nucleic Acids Res (1998) 0.96
In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus. Hum Mutat (1992) 0.96
Familial forms of vitamin D-resistant rickets revisited. X-linked hypophosphatemia and autosomal recessive vitamin D dependency. Am J Clin Nutr (1976) 0.96
Glutamic acid decarboxylase (GAD) in mammalian tissue outside the central nervous system, and its possible relevance to hereditary vitamin B6 dependency with seizures. Ann N Y Acad Sci (1969) 0.95