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

Author:

Ellis G.,Wilcock A. R.,Goldberg D. M.

Publisher

BMJ

Subject

Pediatrics, Perinatology and Child Health

Reference34 articles.

1. A simple spot screening test for galactosemia;Beutler, E.; Baluda, M.C.;Journal of Laboratory and Clinical Medicine,1966

2. Improved method for measuring galactose-1-phosphate uridyl transferase activity of erythrocytes;Beutler, E.; Baluda, M.C.;Clinica Chimica Acta,1966

3. A new method for the detection of galactosemia and its carrier state;Beutler, E.; Baluda, M.; Donnell, G.N.;Journal of Laboratory and Clinical Medicine,1964

4. A new genetic abnormality resulting in galactose-l-phosphate uridyltransferase deficiency;Beutler, E.; Baluda, M.C.; Sturgeon, P.; Day, R.;Lancet,1965

5. The genetics of galactose-1-phosphate uridyl transferase deficiency;Beutler, E.; Baluda, M.C.; Sturgeon, P.; Day, R.W.;Journal of Laboratory and Clinical Medicine,1966

Cited by 9 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. COMMUNITY SCREENING PROGRAMMES FOR METABOLIC DISORDERS;Developmental Medicine & Child Neurology;2008-11-12

2. Inborn Errors of Carbohydrate Metabolism;Principles of Perinatal—Neonatal Metabolism;1998

3. Diagnosis of Inherited Metabolic Diseases in Severely Ill Children;Annals of Clinical Biochemistry: International Journal of Laboratory Medicine;1982-11

4. Galactosaemia Case for Neonatal Screening Illustrated by Recent Australian Experience;Medical Journal of Australia;1978-10

5. Problems encountered in the diagnosis of galactosaemia;Journal of Clinical Pharmacy and Therapeutics;1976-03

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