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  • 1
    Electronic Resource
    Electronic Resource
    Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase (1992)
    s.l. : American Chemical Society
    Biochemistry 31 (1992), S. 5430-5433 
    Details
    ISSN: 1520-4995
    Source: ACS Legacy Archives
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1021/bi00139a002
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    GENETIC SCREENING OF NEWBORNS (2000)
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Genomics and Human Genetics 1 (2000), S. 139-177 
    Details
    ISSN: 1527-8204
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Biology
    Notes: Abstract Screening of newborn infants for genetic disease began over 35 years ago as a public health measure to prevent mental retardation in phenylketonuria (PKU). It was so successful that tests for several other genetic disorders were added. We review the current status of this screening, including discussions of the genetic disorders often covered and the results of newborn screening for them. We emphasize recent advances. These include expansion of coverage for genetic disorders with the new methodology of tandem mass spectrometry (MS-MS) and the introduction of molecular (DNA) testing to increase the specificity of testing for several disorders, thereby reducing false-positive rates. These and other advances have also produced issues of criteria for screening, missed cases, and appropriate use of stored newborn specimens.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1146/annurev.genom.1.1.139
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Genetics and society (1978)
    [s.l.] : Nature Publishing Group
    Nature 272 (1978), S. 766-766 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Genetics, Law, Social Policy. By Philip Reilly. Pp. 275. (Harvard University Press: Cambridge, Massachusetts and London, 1978). $15; £10.50. IT is doubtful that Robert Guthrie could have anticipated the Pandora's box of legal and social issues that would be opened by genetics when he ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/272766a0
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Comments on final intelligence in late treated patients with phenylketonuria (2000)
    Springer
    European journal of pediatrics 159 (2000), S. S149 
    Details
    ISSN: 1432-1076
    Keywords: AbbreviationPKU phenylketonuria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014380
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    A psychosocial model of a medical problem: Maternal phenylketonuria (1989)
    Springer
    The journal of primary prevention 10 (1989), S. 51-62 
    Details
    ISSN: 1573-6547
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Treatment of maternal phenylketonuria (PKU) consists of a low phenylalanine diet, begun before conception, which is believed to prevent mental retardation, microcephaly, and congenital heart disease in offspring of women with PKU. Experiences in treating these women indicate that their cooperation with medical recommendations is generally poor. We present a psychosocial model on adjustment and coping in maternal PKU. The proposed model defines four stages in the reproductive years of women with PKU, each of which has specific behavioral goals. The four stages are: (1) prevention of unplanned pregnancies; (2) reproductive decision-making; (3) diet initiation; and (4) diet continuation through pregnancy. Review of the literature on the different behaviors expected at the different stages enabled indentification of psychosocial factors that may explain success or failure in achieving the goals at each stage. Based on this theoretical framework, practical implications for treating women with PKU have been suggested.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01324649
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    Paper (German National Licenses)
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