Results 191 to 200 of about 25,909 (224)
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
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The Lancet, 1979
Two cases of maternal phenylketonuria are presented. The first woman, untreated, had 3 children. Her first child was of normal intelligence but had serious personality problems. The second had a major cardiac abnormality incompatible with life. The third had phenylketonuria and was successfully treated from early infancy.
N R, Buist +3 more
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Two cases of maternal phenylketonuria are presented. The first woman, untreated, had 3 children. Her first child was of normal intelligence but had serious personality problems. The second had a major cardiac abnormality incompatible with life. The third had phenylketonuria and was successfully treated from early infancy.
N R, Buist +3 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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Pediatrics In Review, 1986
Phenylketonuria (PKU) has been aptly described as the "epitome of human biochemical genetics." In so distinguishing PKU among the many metabolic disorders now known, Scriver and Clow identified several categories in which this inborn error of metabolism is singularly prominent. First and foremost, PKU represents a fusion of effort between public health
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Phenylketonuria (PKU) has been aptly described as the "epitome of human biochemical genetics." In so distinguishing PKU among the many metabolic disorders now known, Scriver and Clow identified several categories in which this inborn error of metabolism is singularly prominent. First and foremost, PKU represents a fusion of effort between public health
openaire +2 more sources
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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Presse medicale (Paris, France : 1983), 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
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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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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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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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The American Journal of Medicine, 2004
Newborn screening for phenylketonuria began 35 to 40 years ago in most industrialized countries. Because of this initiative, which resulted in early institution of phenylalanine-restricted diets, there are now many young adults with this disease who have normal or near-normal intellectual function.
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Newborn screening for phenylketonuria began 35 to 40 years ago in most industrialized countries. Because of this initiative, which resulted in early institution of phenylalanine-restricted diets, there are now many young adults with this disease who have normal or near-normal intellectual function.
openaire +2 more sources