Combined Methylmalonic Aciduria and Homocystinuria cblC Type of a Taiwanese Infant With c.609G>A and c.567dupT Mutations in the MMACHC Gene

• Glavni autori: Jenn-Tzong Chang (Autor), Ying-Yao Chen (Autor), Tze-Tze Liu (Autor), Mei-Ying Liu (Autor), Pao-Chin Chiu (Autor)
• Format: Knjiga
• Izdano: Elsevier, 2011-08-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Combined methylmalonic aciduria and homocystinuria, cobalamin (cbl)C type (cblC disease), the most common inborn error of vitamin B12, is a rare disorder of intracellular cbl metabolism because of mutations in the MMACHC gene located in chromosome region 1p34.1. It has become possible to establish p...