Sialuria-Related Intellectual Disability in Children and Adolescent of Pakistan: Tenth Patient Described has a Novel Mutation in the GNE Gene.

Background: Sialuria is a rare inborn error of metabolism caused by excessive synthesis of sialic acid due to the mutation in the binding site of the cytidine monophosphate-sialic acid of UDPGlcNAc 2-Epimerase/ManNAc Kinase (GNE/MNK).

Objective: This is the first study investigating the molecular basis of neuronal disorders exhibiting sialuria in Pakistani children/adolescents.

Methods: The current study genotyped GNE SNPs rs121908621, rs121908622 and rs121908623 by using PCR, RFLP, and DNA sequencing methods.

Comparison of Urdu version of Strengths and Difficulties Questionnaire (SDQ) and the Child Behaviour Check List (CBCL) amongst primary school children in Karachi.

Objective: To compare CBCL (Child Behaviour Check Llist) Urdu, with the validated Urdu version of Strengths and Difficulties Questionnaire (SDQ) used as "gold standard" among school children in Karachi, Pakistan, and to develop local cutoffs for CBCL using SDQ as a gold standard.

Study Design: A cross-sectional study.

Place And Duration Of Study: Schools of Karachi metropolitan area from January to December 2006.

Psychiatric disorders in bone marrow transplant patients.

Objective: To identify the psychiatric illnesses in patients with hematological/oncological disorders encountered during blood and bone marrow transplantation.

Design: Cross-sectional study.

Place And Duration Of Study: Bismillah Taqee Institute of Health Sciences and Blood Diseases Centre, Karachi from December 2002 to December 2005.