Results 201 to 210 of about 31,184 (250)
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The Lancet, 2010
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, results in ...
Blau, Nenad +2 more
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Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, results in ...
Blau, Nenad +2 more
openaire +3 more sources
Genetics of Phenylketonuria: Heterozygosity for phenylketonuria
Nature, 1967The first article deals with the problem of using the response to injected phenylalanine to determine whether or not the subject is heterozygous for phenylketonuria. The second article suggests a third allele on the phenylketonuria locus, the corresponding enzyme having a higher affinity for phenylalanine than has the “normal” enzyme.
W. I. Cranston +3 more
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Phenylketonuria, co‐morbidity, and ageing: A review
Journal of Inherited Metabolic Disease, 2020Phenylketonuria (PKU) is a metabolic condition which, left untreated, results in severe and irreversible brain damage. Newborn screening and the development of the low phenylalanine (Phe) diet have transformed the outcomes for people with PKU.
E. Vardy +3 more
semanticscholar +1 more source
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
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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
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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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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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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