J Angus Dobbie

Learn More
OBJECTIVE To investigate seven congenital myopathy patients from six families: one French Gypsy, one Spanish Gypsy, four British Pakistanis, and one British Indian. Three patients required mechanical ventilation from birth, five died before 22 months, one is ventilator-dependent, but one, at 30 months, is sitting with minimal support. All parents were(More)
The measurement of galactose-1-phosphate has been advocated for monitoring galactosaemia. A radioenzymatic method is described in which red-cell haemolysates are incubated with radiolabelled uridine diphospho-glucose and exogenous galactose-1-phosphate uridyl transferase. Labelled glucose-1-phosphate is formed in proportion to the amount of(More)
  • 1