Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10833811 | Molecular Genetics and Metabolism | 2011 | 6 Pages |
Abstract
⺠A new case of NICCD in Europe. ⺠The mutation G437E in citrin causes the NICCD. ⺠A new assay to check citrin deficiency.
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Authors
Giuseppe Fiermonte, Giovanni Parisi, Diego Martinelli, Francesco De Leonardis, Giuliano Torre, Ciro Leonardo Pierri, Alessia Saccari, Francesco Massimo Lasorsa, Angelo Vozza, Ferdinando Palmieri, Carlo Dionisi-Vici,