Results 231 to 240 of about 18,327 (286)
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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.
L I, Woolf, W I, Cranston, B L, Goodwin
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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
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Journal of Autism and Developmental Disorders, 2003
Phenylketonuria (PKU) has been also reported in children with infantile autism (IA); however, the frequency of this association is variably reported. Patients with various forms of hyperphenylalaninemia (HPA) were evaluated applying two methods: the Autism Diagnostic Interview-Revised (ADI-R) and the Childhood Autism Rating Scale (CARS). A total of 243
BAIELLI S +4 more
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Phenylketonuria (PKU) has been also reported in children with infantile autism (IA); however, the frequency of this association is variably reported. Patients with various forms of hyperphenylalaninemia (HPA) were evaluated applying two methods: the Autism Diagnostic Interview-Revised (ADI-R) and the Childhood Autism Rating Scale (CARS). A total of 243
BAIELLI S +4 more
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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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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.
M E, Blaskovics, K N, Shaw
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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 ...
H K, Kornreich +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.
N C, Bradburn +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.
N C, Bradburn +4 more
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Phenylketonuria and Maternal Phenylketonuria
2017Abstract This chapter discusses phenylketonuria and maternal phenylketonuria, including the links between phenylalanine embryopathy and maternal phenylketonuria and biochemical abnormalities. Factors to be considered in nutritional evaluation are discussed, including specific nutrients, and components of the diet.
Susan A. Berry +2 more
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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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Phenylketonuria And Maternal Phenylketonuria
2005Abstract Phenylketonuria (PKU) may be the most thoroughly studied inherited metabolic disorder, a disorder in which the consequences can be multigenerational and can have significantly different outcomes. A neonate may be born with PKU or may be an offspring of a woman with maternal phenylketonuria (MPKU).
Melanie Hunt +3 more
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