Hepatocerebral mitochondrial DNA depletion syndrome due to MPV17 mutation presenting with cholestasis and progressive liver failure in an infant.
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| Title: | Hepatocerebral mitochondrial DNA depletion syndrome due to MPV17 mutation presenting with cholestasis and progressive liver failure in an infant. |
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| Authors: | Priyadarshini, Prerna1 (AUTHOR) prernapriyadarshinisingh@gmail.com, Verma, Sanjeev Kumar1 (AUTHOR) drsanjeev78@gmail.com, Verma, Manisha1 (AUTHOR) manisha.verma.lko@gmail.coml, Singh, S. N.1 (AUTHOR) snsingh@kgmcindia.edu |
| Source: | Journal of Rare Diseases. 10/10/2025, Vol. 4 Issue 1, p1-5. 5p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 2731085X |
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| DOI: | 10.1007/s44162-025-00125-7 |
