| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833907 | Molecular Genetics and Metabolism | 2012 | 9 Pages |
Abstract
⺠We performed metabolic profiling of PKAN. ⺠We found lactate and pantothenate elevations. ⺠We found alterations in bile acid and lipid metabolism. ⺠These findings raise a novel therapeutic hypothesis. ⺠Metabolic profiling is useful to explore biochemical basis of inherited metabolic diseases.
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Authors
Valerio Leoni, Laura Strittmatter, Giovanna Zorzi, Federica Zibordi, Sabrina Dusi, Barbara Garavaglia, Paola Venco, Claudio Caccia, Amanda L. Souza, Amy Deik, Clary B. Clish, Marco Rimoldi, Emilio Ciusani, Enrico Bertini, Nardo Nardocci, Vamsi K. Mootha,