- Genetics of non-syndromic autosomal recessive mental retardationBushra Afroze
Department of Paediatrics and Child Health, Aga Khan University Hospital, Karachi
J Pak Med Assoc 63:106-10. 2013..This short review presents an overview of the current knowledge on clinical information available for the ten genes associated with this unexplored group of genetic disorder...
- Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiencyBushra Afroze
Department of Pediatrics and Child Health, Aga Khan University Hospital, Stadium Road, P O Box 3500, Karachi 74800, Pakistan
Eur J Pediatr 172:1249-53. 2013..Conclusion: As a result of this study, transient pseudo-hypertriglyceridemia should be added to glyceroluria, ketotic hypoglycemia, metabolic acidosis, and lactic acidosis as a useful biochemical marker of FBP deficiency. ..