Homocystinuria presenting as a calcified right atrial mass

• প্রধান লেখক: Tahleel Altaf Shera (Author), Naseer Ahmed Choh (Author), Faiz Altaf Shera (Author), Azher Maqbool Khan (Author)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Wolters Kluwer Medknow Publications, 2018-01-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

Homocystinuria is a genetic inborn error of metabolism due to the deficiency of cystathionine β-synthase resulting in increased serum homocysteine and methionine and decreased cysteine which predisposes affected individuals to arterial and venous thromboembolic phenomena. We present a case of homocy...