Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogeneous
group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning …

Amid mounting concerns about nephrogenic sclerosis and gadolinium deposition in the
brain, physicians and patients alike are starting to question the use of gadolinium chelates …

The COVID-19 pandemic, and the resulting closure of daycare centers worldwide, led to
unprecedented changes in children's learning environments. This period of increased time …

Inborn errors of metabolism (IEM) are individually rare, but collectively numerous. The
application of tandem mass spectrometry (tandem MS) to newborn screening and prenatal …

Once based mainly in paediatrics, inborn errors of metabolism (IEM), or inherited metabolic
disorders (IMD) represent a growing adult medicine specialty. Individually rare these …

Introduction A deficiency of glycogen debrancher enzyme in patients with glycogen storage
disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most …

Background: Loss of function mutations in SGPL1 are associated with Sphingosine-1-
phosphate lyase insufficiency syndrome, comprising steroid resistant nephrotic syndrome …

Inborn errors of metabolism (IEM) are heterogeneous group of disorders that might present
in the clinics or emergency departments in different phenotypes, and one of these is a …

Abstract In Unani System of Medicine, humours (Akhlat) play a vital role in maintenance of
health; imbalance of their proportion either qualitative or quantitative can cause disease …

Background: Inborn errors of metabolism (IEMs) refer to rare heterogeneous genetic
disorders with various clinical manifestations that can cause serious physical and …