MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN METHYLMALONIC ACIDEMIA DUE TO MUT DEFICIENCY
Autor: | Manuel Schiff, Bernd C. Schwahn, Brigitte Chabrol, J. Lawrence Merritt, Jerry Vockley, Hilary Vernon, Gerard T. Berry, Saikat Santra, Chung Lee, Dwight Koeberl, Hong Li, Barbara Burton, Javier De las Heras, George Diaz, Mariana Faria-Urbina, Junxiang Luo, Husain Attarwala, Vanja Sikirica, Min Liang, Lin T. Guey, Christine Lukacs, Paolo G.V. Martini, Ruchira Glaser, Nuria Carrillo |
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Rok vydání: | 2023 |
Předmět: | |
Zdroj: | Molecular Genetics and Metabolism. 138:107475 |
ISSN: | 1096-7192 |
DOI: | 10.1016/j.ymgme.2023.107475 |
Databáze: | OpenAIRE |
Externí odkaz: |