Published in Pediatrics on March 01, 1967
Neonatal hypertyrosinemia and evidence for deficiency of ascorbic acid in Arctic and subarctic peoples. Can Med Assoc J (1975) 1.42
Screening for inherited metabolic disease by plasma chromatography (Scriver) in a large city. Br Med J (1972) 1.32
A prospective community survey for aminoacidaemias. Proc R Soc Med (1968) 1.16
Genetic aspects of tyrosinemia in the Chicoutimi region. Can Med Assoc J (1967) 1.01
Recovery after dietary treatment of an infant with features of tyrosinosis. Arch Dis Child (1969) 1.01
Protein intake and plasma amino-acids of infants of low birth weight. Br Med J (1971) 0.97
Diagnosis and treatment of tyrosinosis. Arch Dis Child (1968) 0.95
Neonatal hepatitis in premature infants simulating hereditary tyrosinosis. Arch Dis Child (1971) 0.93
Phenylketonuria and its variations. A review of recent developments. Calif Med (1971) 0.92
Neonatal tyrosinaemia: a follow-up study. Arch Dis Child (1968) 0.87
Phenylketonuria. Experience at one center in the first year of screening in California. Calif Med (1968) 0.78
The newborn phenylketonuria screening program in Ontario. Can Med Assoc J (1969) 0.78
Development of tyrosine aminotransferase and para-hydroxyphenylpyruvate dioxygenase activities in fetal and neonatal human liver. J Clin Invest (1982) 0.77
Phenylalanine and tyrosine levels in newborn screening blood samples. Arch Dis Child (1983) 0.75
Problems of phenylketonuria. Br Med J (1971) 0.75
Neonatal screening for phenylketonuria. IV. Factors influencing the occurrence of false positives. Am J Public Health (1974) 0.75
Urinary phenolic acid and alcohol excretion in the newborn. Arch Dis Child (1975) 0.75
Vitamin C for prophylaxis of tyrosinemia in the newborn. Statement by the Nutrition Committee of the Canadian Paediatric Society. Can Med Assoc J (1976) 0.75
A Stepwise, Pilot Study of Bovine Colostrum to Supplement the First Enteral Feeding in Preterm Infants (Precolos): Study Protocol and Initial Results. Front Pediatr (2017) 0.75
Phenylketonuria variants in Ontario. Can Med Assoc J (1976) 0.75
Tyrosinosis: a new variant. Can Med Assoc J (1973) 0.75
Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. Pediatrics (1987) 4.10
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
Hyaline membrane disease. Am Rev Respir Dis (1975) 3.20
Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc Natl Acad Sci U S A (1976) 2.59
Structural analysis of a set of proteins resulting from a bacterial genomics project. Proteins (2005) 2.59
PaO2 levels and retrolental fibroplasia: a report of the cooperative study. Pediatrics (1977) 2.47
The use of biochemical data in screening for mutant alleles and in genetic counselling. Ann Hum Genet (1974) 2.43
Long-standing Morel-Lavallée lesions of the trochanteric region and proximal thigh: MRI features in five patients. AJR Am J Roentgenol (2004) 2.42
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
Screening, counselling and treatment of hereditary metabolic disease; a survey of resources in Canada. Can Med Assoc J (1974) 2.11
Severe traumatic head injury: prognostic value of brain stem injuries detected at MRI. AJNR Am J Neuroradiol (2012) 2.06
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
Toxoplasmosis in cord blood transplantation recipients. Transpl Infect Dis (2012) 2.03
Low birth weight and the battered child syndrome. Am J Dis Child (1971) 2.03
Characteristics of prosthetic joint infections due to Enterococcus sp. and predictors of failure: a multi-national study. Clin Microbiol Infect (2014) 2.02
Human immunodeficiency virus type 1 coreceptor switching: V1/V2 gain-of-fitness mutations compensate for V3 loss-of-fitness mutations. J Virol (2006) 2.00
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
A controlled trial of hydrocortisone therapy in infants with respiratory distress syndrome. Pediatrics (1972) 1.93
Carrier screening for Tay-Sachs disease. Lancet (1990) 1.92
Transient tachypnea of newborn. Possible delayed resorption of fluid at birth. Am J Dis Child (1966) 1.90
Pregnanediols and neonatal hyperbilirubinemia. Am J Dis Child (1966) 1.88
Cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous system. Arch Neurol (1968) 1.86
On the application of knowledge to the patient with genetic disease. Prog Med Genet (1973) 1.84
Lipids, lipoproteins, and apoproteins in serum during infection. Clin Chem (1986) 1.82
Science's neglected legacy. Nature (2000) 1.77
Accelerated appearance of pulmonary surfactant in the fetal rabbit. J Appl Physiol (1971) 1.77
Surfactant inactivation by hyperventilation: conservation by end-expiratory pressure. J Appl Physiol (1975) 1.68
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
In vivo nuclear magnetic resonance studies of glycolytic kinetics in Lactococcus lactis. Biotechnol Bioeng (1999) 1.67
Genetics and Medicine: an evolving relationship. Science (1978) 1.65
Fluid flow induced by nonuniform ac electric fields in electrolytes on microelectrodes. III. Observation of streamlines and numerical simulation. Phys Rev E Stat Nonlin Soft Matter Phys (2002) 1.62
Gram-negative prosthetic joint infection: outcome of a debridement, antibiotics and implant retention approach. A large multicentre study. Clin Microbiol Infect (2014) 1.61
The submarine volcano eruption at the island of El Hierro: physical-chemical perturbation and biological response. Sci Rep (2012) 1.60
Naphthalimides as anti-cancer agents: synthesis and biological activity. Curr Med Chem Anticancer Agents (2001) 1.55
Heroin induction of lung maturation and growth retardation in fetal rabbits. J Pediatr (1973) 1.55
Fixed drug combinations and the displacement of bilirubin from albumin. Pediatrics (1971) 1.54
Functional analysis of the Lactococcus lactis galU and galE genes and their impact on sugar nucleotide and exopolysaccharide biosynthesis. Appl Environ Microbiol (2001) 1.52
Pharmacokinetics of acetaminophen in the human neonate: formation of acetaminophen glucuronide and sulfate in relation to plasma bilirubin concentration and D-glucaric acid excretion. Pediatrics (1975) 1.52
Mist therapy reconsidered; an evaluation of the respiratory deposition of labelled water aerosols produced by jet and ultrasonic nebulizers. Pediatrics (1969) 1.52
Controlled clinical trial of cannabidiol in Huntington's disease. Pharmacol Biochem Behav (1991) 1.51
Recommendations for locus-specific databases and their curation. Hum Mutat (2008) 1.49
Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia. Science (1972) 1.48
Accessory ossicles and sesamoid bones of the ankle and foot: imaging findings, clinical significance and differential diagnosis. Eur Radiol (2003) 1.47
A comparative study of magnetic resonance cholangiography and direct cholangiography. Rev Esp Enferm Dig (2000) 1.47
A case of Hirayama disease treated with laminectomy and duraplasty without spinal fusion. Neurocirugia (Astur) (2009) 1.47
Cohort study of intestinal infection with campylobacter in Mexican children. Lancet (1988) 1.46
Association between maternal diabetes and the respiratory-distress syndrome in the newborn. N Engl J Med (1976) 1.46
Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia. N Engl J Med (1972) 1.46
Physical association of starch biosynthetic enzymes with starch granules of maize endosperm. Granule-associated forms of starch synthase I and starch branching enzyme II. Plant Physiol (1996) 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
A neurobehavioral syndrome after failure to thrive on chloride-deficient formula. Dev Med Child Neurol (1991) 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
Di(1,N6-ethenoadenosine)5', 5'''-P1,P4-tetraphosphate, a fluorescent enzymatically active derivative of Ap4A. FEBS Lett (1991) 1.43
Neonatal hypertyrosinemia and evidence for deficiency of ascorbic acid in Arctic and subarctic peoples. Can Med Assoc J (1975) 1.42
Menkes disease. New ocular and electroretinographic findings. Ophthalmology (1998) 1.42
Lung surfactant and neonatal respiratory distress syndrome. Am J Respir Crit Care Med (1998) 1.42
Daptomycin is safe and effective for the treatment of gram-positive cocci infections in solid organ transplantation. Transpl Infect Dis (2014) 1.41
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
Prolonged rupture of membranes associated with a decreased incidence of respiratory distress syndrome. Pediatrics (1974) 1.38
Factors affecting pulmonary surface properties in the foetal lamb. Clin Sci (1965) 1.37
Open label, prospective, randomized controlled trial of an endoscopic duodenal-jejunal bypass sleeve versus low calorie diet for pre-operative weight loss in bariatric surgery. Surg Endosc (2008) 1.37
Intercalators as anticancer drugs. Curr Pharm Des (2001) 1.36
[Tay-Sachs disease: prenatal detection and diagnosis]. Union Med Can (1972) 1.36
Acceleration of appearance of pulmonary surfactant in the fetal lamb by administration of corticosteroids. Am Rev Respir Dis (1970) 1.35
Metabolic characterization of Lactococcus lactis deficient in lactate dehydrogenase using in vivo 13C-NMR. Eur J Biochem (2000) 1.35
Identification of the UDP-glucose-binding polypeptide of callose synthase from Beta vulgaris L. by photoaffinity labeling with 5-azido-UDP-glucose. J Biol Chem (1990) 1.34
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
Hepatocellular adenomas associated with anabolic androgenic steroid abuse in bodybuilders: a report of two cases and a review of the literature. Br J Sports Med (2005) 1.33
Effect of phenobarbital on hyperbilirubinemia and glucuronide formation in newborns. Am J Dis Child (1970) 1.33
CHAPS Solubilization and Functional Reconstitution of beta-Glucan Synthase from Red Beet Root (Beta vulgaris L.) Storage Tissue. Plant Physiol (1987) 1.32
Cardiac valve calcification in haemodialysis patients: role of calcium-phosphate metabolism. Nephrol Dial Transplant (1998) 1.31
Phenylketonuria: epitome of human biochemical genetics (first of two parts). N Engl J Med (1980) 1.30
Use of dithiothreitol to correct cystine storage in cultured cystinotic fibroblasts. Lancet (1970) 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
The AXH module: an independently folded domain common to ataxin-1 and HBP1. FEBS Lett (2003) 1.29
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