How To Use Ketonuria In A Sentence
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As an example of the power of environmental effects, consider infants with the genetic disorder PKU (phenylketonuria).
The Volokh Conspiracy » Some Scientists’ Openness to the Possibility of Genetic Differences in Mental Traits Among Racial and Ethnic Groups
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Newborn screening was pioneered in the 1940s by Robert Guthrie, who, having developed a simple blood test for a form of mental retardation called phenylketonuria PKU, proposed the newborn heel stick test to test for PKU and other “inborn errors of metabolism.”
The $1,000 Genome
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Samples obtained through screening programme for phenylketonuria and congenital hypothyroidism.
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Objective To establish a simple, accurate and rapid method for screening of the mutant genes in phenylketonuria.
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A classic example of an autosomal recessive inborn error of metabolism is phenylketonuria.
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She had normal thyroid function, ketonuria, and mild diffuse ST-T wave changes.
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Organic acidopathies (propionic acidemia, methylmalonic acidemia, biotinidase deficiency, phenylketonuria (PKU) and other disorders)
Biochemical Genetics-Metabolic Disease
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This is generally indicated if the patient is clearly unwell, if she has ketonuria, or if her blood glucose concentration is > 20 mmol/l.
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In terms of biochemical genetics, the consequences of a metabolic block may be rectified by dietary limitation of the precursor of an injurious accumulation product, aromatic amino acids in phenylketonuria; or by supplying the essential end product from without the cell, the specific blood protein in hemophilia, or a specific essential nutrient molecule such as a vitamin.
Edward Tatum - Nobel Lecture
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For example, read: “Intellectual performance of 36 phenylketonuria patients and their nonaffected siblings” by Dobson, Kushida and Williams (1976) in Pediatrics volume 58, pages53 – 58.
The Volokh Conspiracy » Some Scientists’ Openness to the Possibility of Genetic Differences in Mental Traits Among Racial and Ethnic Groups
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Years ago all babies were screened for a very rare condition called phenylketonuria PKU with a blood test.
The Official Lamaze® Guide
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Despite giving himself an increased dose he soon developed hyperglycaemia and ketonuria.
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Persons with a rare hereditary disease known as phenylketonuria must control their phenylalanine intake from all sources, including Aspartame.
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Lactic acidosis should be suspected in any diabetic patient with metabolic acidosis lacking evidence of ketoacidosis (ketonuria and ketonemia).
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The discovery led to the most effective treatment for the disease (now called phenylketonuria )—a diet low in phenylalanine, which the body converts to phenylpyruvic acid.
DIY DNA: One Father's Attempt to Hack His Daughter's Genetic Code
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Several diseases are directly caused due to single nucleotide changes such as thalassaemia, muscular dystrophy, phenylketonuria, long QT syndrome, familial hypertrophic cardiomyopathy etc.
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Stem cell technology may produce cures for Alzheimer's disease; vascular growth factors may enable the body to produce its own cardiac bypasses; and the elimination of metabolic derangements may cure phenylketonuria and diabetes.
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Glucose toxicity, which is exhibited as a fasting plasma glucose level greater than 250 mg per dL, and ketonuria, weight loss, or symptomatic hyperglycemia, can be addressed promptly with insulin therapy.
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Virtually the only people who cannot consume the artificial sweetener aspartame are those who have a rare hereditary disease called phenylketonuria PKU—and every product that contains aspartame carries a PKU warning on the label.
The Small Change Diet
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In the dog the blood sugar rises from normal to 150 to 300 mg per cent; there is glycosuria; ketonemia and ketonuria increase; and there is polyuria and polydipsia.
Bernardo Houssay - Nobel Lecture
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Baseline assessments of height, weight, blood pressure, urinary specific gravity, and ketonuria were obtained.
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In other words, children with phenylketonuria can and should have a normal productive life.
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In the dog the blood sugar rises from normal to 150 to 300 mg per cent; there is glycosuria; ketonemia and ketonuria increase; and there is polyuria and polydipsia.
Bernardo Houssay - Nobel Lecture
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genetic screening of infants for phenylketonuria
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These conditions include sickle cell anemia, beta thalassemia, phenylketonuria PKU, hypothyroidism,8 and galactosemia.
Pregnancy, Childbirth, and the Newborn
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College Dublin, who led the study, hopes that the findings will contribute to the understanding of genetic diversity in the human population and help to identify genetic susceptibility to diseases common in the Irish population such as cystic fibrosis, haemochromatosis and phenylketonuria.
NASIOC
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Later it was shown, in collaboration with Collip, that other symptoms of diabetes, namely the ketonuria and the absence of glycogen from the liver, were favourably influenced by the extracts and, with Hepburn, that the respiratory quotient became raised.
John Macleod - Nobel Lecture
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It would be another quarter of a century before scientists finally identified Carol’s condition she was suffering from phenylketonuria, or PKU, brain degeneration caused by inability in the newborn child to process a chemical called phenyl, a deficiency that can be treated only if detected in its early stages.
PEARL BUCK IN CHINA
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Objective To establish a method with high efficiency in detecting phenylalanine hydroxylase(PAH) gene mutations and hence to rapidly diagnose prenatal fetals with phenylketonuria .
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Tuberous sclerosis, untreated phenylketonuria and fragile X syndrome are genetic syndromes associated with autism.
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(Unless you have a genetic disease called phenylketonuria (PKU), which prevents you from digesting the amino acid phenylalanine.
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