| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833741 | Molecular Genetics and Metabolism | 2012 | 10 Pages |
Abstract
⺠We reviewed 371 cases of pyruvate dehydrogenase complex deficiency. ⺠We defined the dominant clinical and biochemical phenotype. ⺠The various biochemical etiologies of the disease had similar clinical courses.
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Authors
Kavi P. Patel, Thomas W. O'Brien, Sankarasubramon H. Subramony, Jonathan Shuster, Peter W. Stacpoole,