Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia-Reference-Cited by-同舟云学术

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Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia

Published:2015-06 Issue: Volume:446 Page:171-174
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Liu Ying,Sidhu Alpa,Bean Lora H.,Conway Robert L.,Fridovich-Keil Judith L.

Funder

NIH

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference10 articles.

1. Classic galactosemia and clinical variant galactosemia;Berry,2014

2. Galactosemia;Fridovich-Keil,2008

3. CDC grand rounds: newborn screening and improved outcomes;CDC,2012

4. Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead;Pyhtila;JIMD Rep,2015

5. Galactosemia: when is it a newborn screening emergency?;Berry;Mol Genet Metab,2012

Cited by 1 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. Alterations of galactose metabolism caused by deficit of galactose-1-phosphate uridylyltransferase activity: An overview of galactosemia type I;Molecular Nutrition: Carbohydrates;2019

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