Results 281 to 290 of about 48,194 (317)
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THE INCIDENCE OF PKU IN FINLAND
Acta Paediatrica, 1971SummaryGuthrie's bacterial inhibition test was applied to 71 135 newborn infants from different parts of Finland. No cases of PKU were diagnosed. In addition, 3 685 mentally retarded patients, mostly idiots and imbeciles, have been screened in Finland with the same method.
J. Palo +2 more
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Tetrahydrobiopterin and maternal PKU
Molecular Genetics and Metabolism, 2005A 29-year-old woman with PKU is presented, who was successfully treated with phenylalanine restriction as well as oral BH4 during this pregnancy, with a normal outcome. Her PAH mutation was R408W/F39L. Remarkably, the blood phenylalanine control was easily accomplished during this pregnancy.
Richard Koch +2 more
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Incidence of phenylketonuria (PKU) in Iran
The Indian Journal of Pediatrics, 1982To find the incidence of PKU in Iran, 8633 neonates from different hospitals in Tehran were screened. Seven of these neonates had minor hyperphenylalaninemia (5 with 6 mg% and 2 with 8 mg%). Only one case with hyperphenylalaninemia (more than 20 mg%) was detected.
D D Farhud, M Kabiri
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FETAL ULTRASONOGRAPHY IN MATERNAL PKU
Prenatal Diagnosis, 1996Maternal phenylketonuria (PKU) is teratogenic and results in birth defects that include microcephaly, mental retardation, congenital heart disease, and intrauterine growth retardation. Treatment with a low phenylalanine diet can prevent or reduce the severity of the complications.
Deborah Lobbregt +4 more
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New England Journal of Medicine, 1968
A simple syllogism has governed thinking and publicity about phenylketonuria (PKU) and a large number of other diseases of metabolism associated with mental retardation.
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A simple syllogism has governed thinking and publicity about phenylketonuria (PKU) and a large number of other diseases of metabolism associated with mental retardation.
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Pediatrics International, 1988
AbstractThe differential diagnosis of phenylalanine hydroxylase deficiency (PAHD) by biochemical methods is difficult. Using standardized oral protein loading or the intravenous deuterated phenylalanine (phe) load in 46 patients with PAHD, three groups could be distinguished: 1) Phenylketonuria (PKU) with plasma phe levels over 20 mg% under the protein
Uta Lichter-Konecki +4 more
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AbstractThe differential diagnosis of phenylalanine hydroxylase deficiency (PAHD) by biochemical methods is difficult. Using standardized oral protein loading or the intravenous deuterated phenylalanine (phe) load in 46 patients with PAHD, three groups could be distinguished: 1) Phenylketonuria (PKU) with plasma phe levels over 20 mg% under the protein
Uta Lichter-Konecki +4 more
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New England Journal of Medicine, 1970
Introduction of a rational therapy for phenylketonuria kindled widespread hopes, some of which were perhaps naive, that this form of mental deficiency could be eliminated, that similar ways could be opened to deal effectively with other, more frequent types of mental deficiency, and even that this disease offered, as J. B. S. Haldane once said about it,
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Introduction of a rational therapy for phenylketonuria kindled widespread hopes, some of which were perhaps naive, that this form of mental deficiency could be eliminated, that similar ways could be opened to deal effectively with other, more frequent types of mental deficiency, and even that this disease offered, as J. B. S. Haldane once said about it,
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New England Journal of Medicine, 1978
Elsewhere in this issue of the Journal is an instructive illustration of Murphy's Law applied to medicine: if anything can go wrong, it will.
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Elsewhere in this issue of the Journal is an instructive illustration of Murphy's Law applied to medicine: if anything can go wrong, it will.
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Pediatrics, 1978
Tests for phenylketonuria (PKU) using 10% ferric chloride solution dropped on wet diapers are done frequently. Recently, I have found a number of false-positive PKU tests, as have my colleagues. Some of these false-positive tests show up as green spots that appear immediately.
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Tests for phenylketonuria (PKU) using 10% ferric chloride solution dropped on wet diapers are done frequently. Recently, I have found a number of false-positive PKU tests, as have my colleagues. Some of these false-positive tests show up as green spots that appear immediately.
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Sources of Error in Testing for PKU
Pediatrics, 1968It is routine practice in our office to test wet diapers with fernic chloride 10% solution at 1-and 2-month well-baby visits. We also do this on all new patients who are 1 year or less as part of the first visit routine. We frequently see abnormal colors from certain urinary constituents, such as the by-products of aspirin metabolism, or from other ...
Harold B. Kratka +2 more
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