Neonatal screening, clinical features and genetic testing for galactosemia
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical)
Reference4 articles.
Cited by 6 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. Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants;Clinical Genetics;2017-08-09
2. Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases;Journal of Pediatric Endocrinology and Metabolism;2017-01-01
3. Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: Structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene;Gene;2015-04
4. Newborn screening for inborn errors of metabolism and endocrinopathies: an update;Analytical and Bioanalytical Chemistry;2008-11-29
5. Distinct roles of galactose-1P in galactose-mediated growth arrest of yeast deficient in galactose-1P uridylyltransferase (GALT) and UDP-galactose 4′-epimerase (GALE);Molecular Genetics and Metabolism;2008-02
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