Results 181 to 190 of about 11,988 (216)
Some of the next articles are maybe not open access.
Maternal PKU syndrome in an exceptional family with unexpected PKU
Journal of Inherited Metabolic Disease, 1986AbstractMild maternal phenylketonuria needs treatment during pregnancy.
E. E. E. Meuleman +3 more
openaire +3 more sources
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.
Gabor Barabas, Wendy S. Matthews
openaire +3 more sources
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.
Gabor Barabas, Wendy S. Matthews
openaire +3 more sources
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.
Laura L. Duncan, Sonyia B. Elder
openaire +3 more sources
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
openaire +3 more sources
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
openaire +3 more sources
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
openaire +3 more sources
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
openaire +3 more sources
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.
openaire +3 more sources
A simple syllogism has governed thinking and publicity about phenylketonuria (PKU) and a large number of other diseases of metabolism associated with mental retardation.
openaire +3 more sources
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
openaire +3 more sources
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
openaire +3 more sources
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,
openaire +3 more sources
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,
openaire +3 more sources