Article
Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.
Molecular genetics and metabolism - 1 Mar 2016
Pupavac Mihaela, Tian Xia, Chu Jordan, Wang Guoli, Feng Yanming, Chen Stella, Fenter Remington, Zhang Victor W, Wang Jing, Watkins David, Wong Lee-Jun, Rosenblatt David S
Abstract excerpt
Next generation sequencing (NGS) based gene panel testing is increasingly available as a molecular diagnostic approach for inborn errors of metabolism. Over the past 40 years patients have been referred to the Vitamin B12 Clinical Research Laboratory at McGill University for diagnosis of inborn errors of cobalamin metabolism by functional studies in cultured fibroblasts. DNA samples from patients in which no...
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