Elsayed Abdelkreem

2 Questions 11 Answers 0 Followers

Questions related from Elsayed Abdelkreem

Any suggestions on a mutation analysis of MKKS gene?

We have diagnosed a girl with McKusick-Kaufman syndrome (MKS) based on clinical presentation with hydrometrocolpos, polydactyly, and congenital heart disease. We want to confirm the diagnosis at...

14 November 2015 8,498 4 View

Have you discovered patients with beta-ketothiolase deficiency?

Beta-ketothiolase deficiency (T2) is a rare disorder of ketone body metabolism and isoleucine catabolism. In order to gather patients with this disorder, I ask physicians who have suspected...

03 November 2015 7,666 7 View