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Phenylalanine loading tests in genetic counselling: 5 Years experience with its premarital use
Author(s) -
Hyánek J.,
Viletová H.,
Kunová V.,
Kubík M.
Publication year - 1981
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02263586
Subject(s) - genetic counseling , human genetics , phenylketonurias , medicine , phenylalanine , pediatrics , genetic testing , metabolic disease , psychology , genetics , endocrinology , biology , amino acid , gene
Genetic counselling has been given to 71 engaged couples at risk of producing a phenylketonuric child. Five marriages were not recommended. None of the 51 children born to the recommended marriages has phenylketonuria.