Genetic screening of newborn in Australia: results for 1979

Autor:	D. Pitt, J. Connelly, I. Francis, Bridget Wilcken, D. A. Brown, Evelyn Robertson, G. Hill, P. Masters, R. G. Tucker, J. Raby, Jean McFarlane, Joan Hancock
Rok vydání:	1981
Předmět:	Male Phenylalanine Phenylketonurias Australia Infant Newborn Humans Female General Medicine Hyperthyroidism Metabolism Inborn Errors
Zdroj:	The Medical journal of Australia. 1(1)
ISSN:	0025-729X
Popis:	Since screening of newborn infants for phenylketonuria (PKU) by Guthrie bacterial inhibition assay was established in the 1960s, 2 556 498 infants have been tested in Australia. Two hundred and twenty-two cases of PKU, and five cases of the variant forms of malignant hyperphenylalaninaemia (MHPA) have been found over this period, an incidence of 1/11 516 for PKU, and 1/511 300 for MHPA. In 1979, 18 infants with PKU and one with MHPA were detected. Screening for congenital hypothyroidism was carried out in four centres, and 28 new cases were detected in 1979 (an incidence of 1/5746).
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86d7b5df151e444c23b57d382b5c7844 https://pubmed.ncbi.nlm.nih.gov/7207294 Zobrazit plný text záznamu Plný text