Background Information concerning inherited metabolic diseases in China is scarce. We
investigated the prevalence and age distributions of amino acid, organic acid, and fatty acid …

Background Inborn errors of metabolism (IEM) are a rare group of genetic diseases which
can lead to several serious long-term complications in newborns. In order to address these …

Laboratory-based testing does not reach many individuals in lower-resource settings who
could benefit from access to appropriate tests for diagnosis and therapy. A critical issue is …

Objective: The aim of this work was to detect the prevalence of IEM among neonates with
suspected IEM, and to diagnose IEM as early as possible in order to minimize morbidity and …

Ionic liquid based molecularly imprinted polymers have attracted considerable attention as
biomimetic recognition materials due to their water-compatibility and high binding …

Background The purpose of this study is to investigate the positive rates of screening tests
for inherited metabolic disorders, set cutoff values, and report the actual status of internal …

Las acidurias orgánicas son las enfermedades metabólicas hereditarias más frecuentes en
pacientes pediátricos con estado crítico de enfermedad. Este trabajo describe la …

Background & aims Many studies have reported that serum total homocysteine (tHcy) levels
in cystathionine-beta-synthase (CBS) carriers are usually normal and only elevated after a …

Introduction: The acyl-CoA dehydrogenases (ACADs) have a central role in the catabolism
of fatty acids and amino acids, and the production of chemical energy in the form of ATP …

目的总结以发育落后为主要表现, 疑有遗传性代谢病患儿的血液筛查结果. 方法2010 年3 月~
2013 年10 月采用串联质谱检查技术检测滤纸片中酰基肉碱和氨基酸等小分子代谢物含量 …