An increasing number of mitochondrial diseases are found to be caused by pathogenic
variants in nuclear encoded mitochondrial aminoacyl-tRNA synthetases. FARS2 encodes …

Types III and IV spinal muscular atrophy represent a diagnostic challenge due to the great
variability in their presentation. We report a series of eight patients with type III spinal muscular …

Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder that is characterized
by progressive muscle weakness, resulting in disability and premature death. Onset of …

Pyridoxine-dependent epilepsy presents early in life, even in utero. It is usually refractory to
conventional antiepileptic medications and responds only to lifelong pyridoxine …

… From the Department of Pediatrics (Muthaffar), Faculty of Medicine, King Abdulaziz
University, Jeddah, and the Department of Pediatric Neurology (Mahmoud, Al-Saman), National …

Multiple sclerosis (MS) is an inflammatory demyelinating disease that affects the CNS. The
typical MS lesions appear as asymmetric and multifocal, T2-weighted and fluid attenuation …

Guillain-Barre syndrome [GBS] usually presents in a symmetrical ascending fashion of
weakness. We present a 6-month-old male infant who presented to our emergency room with …

… Alsaman et al. [54] designed a new proposed SADDC system, as illustrated in Figure 3, and
experimentally tested it in Egypt’s … the SADDC system in Egypt’s weather conditions by using …

… Alsaman et al. [54] designed a new proposed SADDC system, as illustrated in Figure 3, and
experimentally tested it in Egypt’s … the SADDC system in Egypt’s weather conditions by using …

Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The
list of monogenic forms of ID has increased rapidly in recent years thanks to the …