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Preliminary report on a mass screening program for neonatal hypothyroidism.
TLDR
The frequency of congenital hypothyroidism is about one in 7,000 births and the immunoassay is effective in detecting thyroid hormone abnormalities with an acceptable percentage of false positive measurements; no false negative results have occurred. Expand
Circulating lipids and lipoproteins in glycogen storage disease type I with nocturnal intragastric feeding.
TLDR
The data suggest that glycogen storage disease type I patients on nocturnal intragastric feeding remain at risk for atherosclerosis and its complications. Expand
Ornithine Transcarbamylase Deficiency in Mutant Mice I. Studies on the Characterization of Enzyme Defect and Suitability as Animal Model of Human Disease
TLDR
The high orotic acid excretion by mutant mice underlines the basic similarity of these animals to the human counterpart and would prove to be useful animal models for studying nutritional and therapeutic measures to alleviate the consequences of OTC deficiency in children. Expand
Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease.
TLDR
Eight infants presented with a malabsorption syndrome, normal fasting triglycerides, hypocholesterolemia, and deficiency of vitamins A and E, characterized by normal apoproteins, high phospholipids, and low cholesterol, and chylomicrons could not be identified after a fatty meal. Expand
Modification of a screening program for neonatal hypothyroidism.
TLDR
From the experience in the screening of 212,000 newborn infants, a flow chart for processing T4 and TSH measurements obtained from initial filter paper blood spots is devised, which indicates that about 1.84% require a spot TSH determination, and 1.1% require repeat determinations of T4. Expand
Patient characteristics and costs of severe sepsis and septic shock in Quebec.
TLDR
The cost of severe sepsis is a significant burden to the Quebec health care system and is higher if costs beyond day 28 are included. Expand
Guanidino compounds in plasma, urine and cerebrospinal fluid of hyperargininemic patients during therapy.
TLDR
During a low-arginine diet, together with sodium benzoate therapy, the plasma and cerebrospinal fluid arginine values returned to normal and there was also a normalization of plasma guanidinoacetic acid and a marked decrease in plasma N-alpha-acetyl arginine and argininic acid. Expand
Preliminary results on the mental development of hypothyroid infants detected by the Quebec Screening Program.
TLDR
There were no statistically significant differences in the various test scores between the two populations at age 12 months, but at age 18 and 36 months the hypothyroid infants had lower scores in hearing-speech performance scales and practical reasoning which also decreased their global quotient. Expand
Lack of influence of thyroid antibodies on thyroid function in the newborn infant and on a mass screening program for congenital hypothyroidism.
TLDR
The results indicate a high incidence (8%) of MCA in the presumed normal newborn population, MCA does not decrease serum T4' T3' and TSH concentration or filter paper spot T4 and T SH, and thyroid autoimmunity is not a frequent cause of congenital hypothyroidism. Expand
TSH measurements from blood spots on filter paper: a confirmatory screening test for neonatal hypothyroidism.
TLDR
A sensitive radioimmunoassay for the measurement of TSH in the eluate of blood spotted on filter paper has been developed and has permitted rapid confirmation of 10 cases of neonatal hypothyroidism. Expand
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