| Genetic screening of newborn in Australia: results for 1980. | |
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MedLine Citation:
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PMID: 7132849 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Journal Article |
Journal Detail:
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Title: The Medical journal of Australia Volume: 1 ISSN: 0025-729X ISO Abbreviation: Med. J. Aust. Publication Date: 1982 Feb |
Date Detail:
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Created Date: 1982-12-16 Completed Date: 1982-12-16 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 0400714 Medline TA: Med J Aust Country: AUSTRALIA |
Other Details:
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Languages: eng Pagination: 119-20 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Australia Congenital Hypothyroidism* Cystic Fibrosis / diagnosis Female Genetic Testing* Humans Infant, Newborn Phenylalanine / blood Phenylketonurias / diagnosis* |
| Chemical | |
Reg. No./Substance:
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63-91-2/Phenylalanine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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