Another biochemical variant of galactose mia

. (1972). Archives of Disease in Childhood, 47, 34. Experience of routine live-birth screening for galactosaemia in a British hospital, with emphasis on heterozygote detection. Results are reported of a screening programme for galactosaemia covering a period of 2A years and 6415 births. The gene frequency for galactosaemia estimated from the data of the screening programme was 0-002. This conflicted with the known livebirth incidence of at least 1: 50,000 during this same period. 2 of the 4 galactosaemic infants concerned died under circumstances that were preventable had they been screened at birth. The need to screen all sick infants for galactosaemia is emphasized, as is the requirement for reliable information on its incidence in Great Britain. The screening test employed (Beutler and Baluda, 1966a)

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Another biochemical variant of galactose mia

Cited by 2 publications

References 11 publications

A propos des relations entre le galactose et le cristallin

A propos des relations entre le galactose et le cristallin

Experience of Routine Live-birth Screening for Galactosaemia in a British Hospital, with Emphasis on Heterozygote Detection

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