Tag: Paediatric neurological disorders
The effect of using dexmedetomidine versus morphine as sedation on long-term neurodevelopmental outcomes of encephalopathic neonates undergoing therapeutic hypothermia
To compare neurodevelopmental outcomes using Bayley Scales of Infant Development (BSID), between encephalopathic neonates undergoing therapeutic hy…
Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history
Mutations in IBA57 disrupt iron-sulfur clusters maturation, causing a rare mitochondrial disease. Clinical manifestations vary from neonatal…
Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease
Genetic testing identified novel compound heterozygous missense variants in the HEXA gene (NM_00520.6: c.775A>C and NM_000520.6: c.508C&g…