Retrospective examination of ultrasound images obtained at 12 weeks of gestation in two fetuses with spin

To our knowledge, we are the first to report the diffusion-weighted MR imaging findings in a 15-day-old n

Maple syrup urine disease (MSUD) is an inherited metabolic disorder characterised by a severe, usually le

We describe a 64-year-old man with 'citrullinemia type II' whose serum citrulline levels fluctuated betwe

A 30-year-old man developed paresthesia in the feet, unstable gait and blepharoptosis subsequent to phary

We report the case of a newborn child with maple syrup urine disease (MSUD), diagnosed at 10 days of life

We report three unrelated patients with congenital facial nerve palsy and chromosome 22q11 deletion, a co