Lysosomal storage disorders (LSD) are rare entities of recessive inheritance. The presence
of a “founder” mutation in isolated communities with a high degree of consanguinity (eg, …

Background This study reports on the use of whole exome sequencing (WES) to diagnose
children with inborn errors of metabolism and other disorders in United Arab Emirates. …

This study reports on the inborn errors of metabolism (IEM) detected by our national newborn
screening between 2011 and 2014. One hundred fourteen patients (55 UAE citizens and …

Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism
caused by deficiency of mitochondrial isovaleryl-CoA dehydrogenase (IVD). Accumulation of …

Different approaches have been utilized or proposed for the treatment of lysosomal storage
disorders (LSDs) including enzyme replacement and hematopoietic stem cell transplant …

The emergence of Severe Acute Respiratory Syndrome Corona Virus 2 (SARS-CoV-2)
posed a serious worldwide threat and emphasized the urgency to find efficient solutions to …

Inborn errors of metabolism (IEM) are frequently encountered by physicians in the United
Arab Emirates (UAE). However, the mutations underlying a large number of these disorders …

Objectives: To identify the mutations underlying a number of inborn errors of metabolism (IEM)
disorders among United Arab Emirates (UAE) residents. Methods: Molecular diagnostic …

Background: Infantile-onset Pompe disease (IOPD) is a rare and devastating, autosomal
recessive lysosomal storage disorder that manifests immediately after birth. In severe IOPD …

Rare, atypical, and undiagnosed autosomal‐recessive disorders frequently occur in the
offspring of consanguineous couples. Current routine diagnostic genetic tests fail to establish a …