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

Title
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
Authors
Keywords
Next generation sequencing gene panel, Methylmalonic acid, Cobalamin metabolism, Vitamin B, 12, Diagnostic test, Functional studies
Journal
MOLECULAR GENETICS AND METABOLISM
Volume 117, Issue 3, Pages 363-368
Publisher
Elsevier BV
Online
2016-01-24
DOI
10.1016/j.ymgme.2016.01.008

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