Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population
Author:
Publisher
Frontiers Media SA
Subject
Genetics (clinical),Genetics,Molecular Medicine
Reference150 articles.
1. Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria;Aldámiz-Echevarría;J. Hum. Genet.,2016
2. Expanded newborn screening program in saudi arabia: incidence of screened disorders;Alfadhel;J. Paediatr. Child. Health,2017
3. Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations;Alibakhshi;Metab. Brain. Dis.,2014
4. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency;Andresen;Am. J. Hum. Genet.,1999
5. A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency;Arnold;Mol. Genet. Metab.,2008
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