Document Detail


Genetic screening of newborn in Australia: results for 1980.
MedLine Citation:
PMID:  7132849     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Since screening of newborn infants for phenylketonuria (PKU) by Guthrie bacterial inhibition assay was established in the 1960s, 2779 790 infants have been tested in Australia. Two hundred and forty cases of PKU (rate: 1/11 582) and six cases of the variant forms of malignant hyperphenylalaninaemia (MHPA) (rate: 1/463 298) have been detected. In 1980, 18 infants with PKU were detected. Screening for congenital hypothyroidism was carried out in six centres, and 40 new cases were detected in 1980.
Authors:
D Pitt; J Connelly; I Francis; B Wilcken; D A Brown; E Robertson; G Hill; P Masters; R G Tucker; J Raby; J McFarlane; J Hancock
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Medical journal of Australia     Volume:  1     ISSN:  0025-729X     ISO Abbreviation:  Med. J. Aust.     Publication Date:  1982 Feb 
Date Detail:
Created Date:  1982-12-16     Completed Date:  1982-12-16     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0400714     Medline TA:  Med J Aust     Country:  AUSTRALIA    
Other Details:
Languages:  eng     Pagination:  119-20     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Australia
Congenital Hypothyroidism*
Cystic Fibrosis / diagnosis
Female
Genetic Testing*
Humans
Infant, Newborn
Phenylalanine / blood
Phenylketonurias / diagnosis*
Chemical
Reg. No./Substance:
63-91-2/Phenylalanine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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