Results 211 to 220 of about 26,955 (257)
Some of the next articles are maybe not open access.
Obstetrical & Gynecological Survey, 1986
AbstractPregnant women with untreated phenylketonuria (PKU) with blood phenylalanine levels greater than 1200 µmol/L usually give birth to offspring with congenital birth defects, including microcephaly, cardiac defects and mental retardation. According to Mabry and Levy, hyperphenylalaninaemic (HPA) women with blood phenylalanine levels between 600 ...
R, Koch +5 more
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AbstractPregnant women with untreated phenylketonuria (PKU) with blood phenylalanine levels greater than 1200 µmol/L usually give birth to offspring with congenital birth defects, including microcephaly, cardiac defects and mental retardation. According to Mabry and Levy, hyperphenylalaninaemic (HPA) women with blood phenylalanine levels between 600 ...
R, Koch +5 more
openaire +2 more sources
Journal of Inherited Metabolic Disease, 2019
Biogenic amines synthesis in phenylketonuria (PKU) patients with high phenylalanine (Phe) concentration is thought to be impaired due to inhibition of tyrosine and tryptophan hydroxylases and competition with amino acids at the blood‐brain barrier ...
A. Pilotto +16 more
semanticscholar +1 more source
Biogenic amines synthesis in phenylketonuria (PKU) patients with high phenylalanine (Phe) concentration is thought to be impaired due to inhibition of tyrosine and tryptophan hydroxylases and competition with amino acids at the blood‐brain barrier ...
A. Pilotto +16 more
semanticscholar +1 more source
Breastfeeding in phenylketonuria
Acta Paediatrica, 1999Eighty‐three infants with classical phenylketonuria have been born in Norway since 1979. The treatment of these children is centralized at the National Hospital in Oslo. Seventy‐four have been breastfed in combination with a phenylalanine‐free protein substitute.
R Lilje, K Motzfeldt, G Nylander
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Hypophosphatasia with phenylketonuria
Zeitschrift f�r Kinderheilkunde, 1974Hypophosphatasia and phenylketonuria have been encountered in a 9-month-old male infant as two independent inborn errors of metabolism. The pathognomonic triad of bony demineralization, subnormal alkaline phosphatase levels and increased excretion of phosphoethanolamine established the diagnosis of hypophosphatasia.
Kenneth N. F. Shaw, Milan E. Blaskovics
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Phenylketonuria and scleroderma
The Journal of Pediatrics, 1968A diagnosis of scleroderma and phenylketonuria was made in an 18-month-old girl. This is the third recorded incidence of the association of these two disorders. Following institution of a low phenylalanine diet, there was softening of the severe sclerodermatous lesions on the trunk and lower extremities, although new lesions have slowly developed on ...
Virgil Hanson +3 more
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American Journal of Perinatology, 1985
Many young women who were diagnosed as having phenylketonuria (PKU) during routine neonatal screening and effectively treated during childhood are now of childbearing age. Recent reports suggest that maternal dietary therapy instituted before conception may improve the likelihood of a successful pregnancy and normal offspring.
Rebecca S. Roberts +4 more
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Many young women who were diagnosed as having phenylketonuria (PKU) during routine neonatal screening and effectively treated during childhood are now of childbearing age. Recent reports suggest that maternal dietary therapy instituted before conception may improve the likelihood of a successful pregnancy and normal offspring.
Rebecca S. Roberts +4 more
openaire +3 more sources
Clinical Pediatrics, 1962
1. An infant with phenylketonuria who has never had a positive urine FeCl3 test is reported. 2. Some of the problems concerning the diagnosis of phenylketonuria are discussed.
C C, MABRY, T L, NELSON, F A, HORNER
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1. An infant with phenylketonuria who has never had a positive urine FeCl3 test is reported. 2. Some of the problems concerning the diagnosis of phenylketonuria are discussed.
C C, MABRY, T L, NELSON, F A, HORNER
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A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.
Pediatrics, 1963A new method is described for rapid and economical screening of large numbers of hospital nursery infants for elevation in blood phenylalanine associated with phenylketonuria. Results are presented for 682 infants, 96% of whom were 4 days of age. None of
R. Guthrie, Ada Susi
semanticscholar +1 more source
Agoraphobia in phenylketonuria
Journal of Inherited Metabolic Disease, 1990SummaryWe describe agoraphobia as a complication of phenylketonuria (PKU) in young adults. The five patients have classic PKU and received phenylalanine‐restricted diet only in childhood. Only one has normal intelligence. All but one were also depressed. All were anxious.
Susan E. Waisbren, Harvey L. Levy
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2006
Abstract Penny Urick is a 22-year-old G1P0 (one pregnancy, no births) woman who was seen at the family practice clinic for routine prenatal care during her first pregnancy. Mrs. Urick described herself as “generally healthy.”At the time of her visit, she stated that she took no medications and had no known medical allergies; however, her
William L Anderson, Steven M Mitchell
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Abstract Penny Urick is a 22-year-old G1P0 (one pregnancy, no births) woman who was seen at the family practice clinic for routine prenatal care during her first pregnancy. Mrs. Urick described herself as “generally healthy.”At the time of her visit, she stated that she took no medications and had no known medical allergies; however, her
William L Anderson, Steven M Mitchell
openaire +1 more source