Comparison of the effects of season and prematurity on the enzymatic newborn screening tests for galactosemia and biotinidase deficiency
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference21 articles.
1. Reagent that restores galactose-l-phosphate uridyl transferase activity in dry blood spots;Berry;Clin Chem,1987
2. A simple spot screening test for galactosemia;Beuder;J Lab Clin Med,1966
3. Seasonal variation in the incidence of galactosemia: Thermal stability of mutant alleles;Brown,1988
4. The quantitation of biotinidase activity in dried blood spots using microtiter transfer plates: Identification of biotinidase-deficient and heterozygous individuals;Dove Pettit;Anal Biochem,1989
5. Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn;Dunkel;J Inher Metab Dis,1989
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2. The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening;JIMD Reports;2022-09-21
3. Biotinidase deficiency and our champagne legacy;Gene;2016-09
4. The Story of Biotinidase Deficiency and Its Introduction into Newborn Screening: The Role of Serendipity;International Journal of Neonatal Screening;2015-03-05
5. Technical standards and guidelines for the diagnosis of biotinidase deficiency;Genetics in Medicine;2010-07
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