Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A polish experience

Journal of Medical Screening

Volumn 8, Issue 3, 2001, Pages 132-136

  Zekanowski, C ^a,b   Nowacka, M ^a   Radomyska, B ^a   Cabalska, B ^a  

^a INSTITUTE OF MOTHER AND CHILD   (Poland)

^b INTERNATIONAL INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Poland)

Author keywords

Galactosaemia; Hyperphenylalaninaemia; Mutation; Polish population; Screening

Indexed keywords

DNA; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; ENZYME ACTIVITY; GALACTOSEMIA; GENE MUTATION; GENOTYPE; HUMAN; HYPERPHENYLALANINEMIA; INFANT; LEUKOCYTE; MAJOR CLINICAL STUDY; PHENOTYPE; POLAND; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; GALACTOSEMIAS; HUMANS; INFANT; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLAND; PREDICTIVE VALUE OF TESTS; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 0034804386     PISSN: 09691413     EISSN: None     Source Type: Journal    
DOI: 10.1136/jms.8.3.132     Document Type: Article

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