| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8343952 | Molecular Genetics and Metabolism | 2013 | 5 Pages |
Abstract
This case report illustrates (i) a long-term follow-up of a patient with MMA-uria due to cblA deficiency, (ii) the involvement of the kidney as a target organ and (iii) the importance of early and adequate vitamin B12 substitution in responsive patients. Further investigation will be necessary to prove the protective effect of hydroxocobalamin in the kidney in vitamin B12-responsive patients.
Keywords
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Authors
A. Haarmann, M. Mayr, S. Kölker, E.R. Baumgartner, J. Schnierda, H. Hopfer, O. Devuyst, M.R. Baumgartner,