Background Plasma/serum and dried blood spot (DBS) acylcarnitine profiles (ACPs) are key
to the diagnosis of mitochondrial fatty acid β-oxidation disorders (FAODs). Despite their …

出生缺陷是日益突出的公共卫生和社会问题. 新生儿筛查是我国出生缺陷三级防控体系的重要
组成部分, 是提高儿童健康水平和生活质量的重要技术保证. 遗传代谢病的实验室筛查和诊断是 …

Inborn errors of intermediary metabolism (IEiM) are complex diseases with high clinical
heterogeneity, and some patients who have severe enzyme deficiencies or are subjected to …

Background Elevated plasma homocysteine is a risk factor for arterial and venous
thromboses in adults. Homocysteine is increased in cystathionine beta-synthase deficiency …

Background: Metabolic disorders are common in Saudi Arabia. Adherence to a special diet
is essential to prevent developmental disability in phenylketonuria (PKU). Our aim was to …

Le déficit en phénylalanine hydroxylase, traditionnellement appelé phénylcétonurie,
entraîne l'accumulation de phénylalanine dans le sang des individus affectés et a été la …

抄録 In Japan, screening for six diseases including four inborn errors of metabolism has
been performed since 1977 for all neonates to prevent severe mental handicaps or death. A …