AIM Study was designed to analyze the baseline and follow status of metabolomic
parameters in children with CD and in their FDR MATERIALS & METHOD A total of …

Background: Metabolomics is a growing field of research that aims to examine the metabolic
profiles of individuals to predict disease risk, disease progression, and treatment outcomes …

Background The study was conducted to determine reference interval (RI) and evaluate the
effect of preanalytical variables on Dried blood spot (DBS)-amino acids, acylcarnitines and …

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited
mitochondrial metabolic disease of fatty acid β-oxidation, especially in newborns. MCADD is …

Objective: To evaluate a novel clinico-biochemical score for screening of inherited metabolic
diseases (IMDs) in children in our setup. Study Design: Descriptive analytical study. Place …

Background: Mortality in children with severe acute malnutrition (SAM) remains high despite
standardized rehabilitation protocols. Two forms of SAM are classically distinguished …

OBJECTIVE: To study the combined effect of gestational age and birth weight on metabolites
related to inherited metabolic diseases (IMD). METHODS: A total of 3 381 samples ruled out …

ADHD, a neurological condition that onset in childhood is now an important part of the
disease burden in the global population. ADHD is usually diagnosed at school age, and …

目的比较质谱检测与高通量测序(NGS) 筛查疑似遗传代谢病(IMD) 的高危新生儿的诊断效能.
方法纳入2016 年8 月至2018 年6 月复旦大学附属儿科医院(我院) 临床表现疑似IMD …

Objectives From the first description by Leo Kanner [1], autism has been an enigmatic
neurobehavioral phenomenon. The new genetic/genomic technologies of the past decade …