Results 191 to 200 of about 16,591 (243)
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Tijdschrift voor Kindergeneeskunde, 2010
Neonatale screening beoogt ernstige behandelbare aandoeningen bij de pasgeborene op te sporen. Een positieve screening voor fenylketonurie (PKU) betekent niet per definitie dat het gaat om hyperfenylalaninemie ten gevolge van klassieke PKU.
Croonen, E.A. +2 more
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Neonatale screening beoogt ernstige behandelbare aandoeningen bij de pasgeborene op te sporen. Een positieve screening voor fenylketonurie (PKU) betekent niet per definitie dat het gaat om hyperfenylalaninemie ten gevolge van klassieke PKU.
Croonen, E.A. +2 more
openaire +3 more sources
, 2012 Neonatal screening for Hyperphenylalaninemia (HPA) is compulsory by law in Italy since 05/02/1992. Italy's incidence of newborns affected by ant form of HPA is equal to 1:3,494 live births, with 1:8.681 requiring specific treatment (Annual Technical Report 2010-SIMMESN). The following data were obtained by a questionnaire sent to all 16 Italian Centers
M. Giovannini +17 more
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Journal of Inherited Metabolic Disease, 1986
AbstractThis review summarizes the isolation of rat phenylalanine hydroxylase mRNA and its use in the synthesis of its cDNA. As rat cDNA cross‐hybridized with human phenylalanine hydroxylase mRNA, the rat cDNA probe was used to screen a human liver cDNA library.
F, Güttler, S L, Woo
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AbstractThis review summarizes the isolation of rat phenylalanine hydroxylase mRNA and its use in the synthesis of its cDNA. As rat cDNA cross‐hybridized with human phenylalanine hydroxylase mRNA, the rat cDNA probe was used to screen a human liver cDNA library.
F, Güttler, S L, Woo
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Maternal PKU syndrome in an exceptional family with unexpected PKU
Journal of Inherited Metabolic Disease, 1986AbstractMild maternal phenylketonuria needs treatment during pregnancy.
J B, De Klerk +3 more
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Pediatrics, 1986
In response to the article by Seashore et al, "Loss of Intellectual Function in Children With Phenylketonuria After Relaxation of Dietary Phenylalanine Restriction" (Pediatrics 1985;75:266-232): we have had a similar experience at the PKU Outpatient Clinic at the Bancroft School in Haddonfield, NJ.
G, Barabas, W S, Matthews
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In response to the article by Seashore et al, "Loss of Intellectual Function in Children With Phenylketonuria After Relaxation of Dietary Phenylalanine Restriction" (Pediatrics 1985;75:266-232): we have had a similar experience at the PKU Outpatient Clinic at the Bancroft School in Haddonfield, NJ.
G, Barabas, W S, Matthews
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Breastfeeding the Infant with PKU
Journal of Human Lactation, 1997Breastfeeding is possible with children who have phenylketonuria. Based on the decisions made by the breastfeeding mother and the infant's physician, there are multiple methods of management which can be utilized to provide breast milk for the infant with PKU.
L L, Duncan, S B, Elder
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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 K, Visakorpi, J, Palo, O V, Renkonen
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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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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, 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.
openaire +2 more sources