MPV17 mutation–related mitochondrial DNA depletion syndrome: A case series in infants
Author:
Publisher
Springer Science and Business Media LLC
Subject
Gastroenterology
Link
https://link.springer.com/content/pdf/10.1007/s12664-022-01281-0.pdf
Reference12 articles.
1. Wong LJ, Brunetti-Pierri N, Zhang Q, et al. Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology. 2007;46:1218–27.
2. Al-Hussaini A, Faqeih E, El-Hattab AW, et al. Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure. J Pediatr. 2014;164:553–9.
3. Shimura M, Kuranobu N, Ogawa-Tominaga M, et al. Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation. Orphanet J Rare Dis. 2020;15:169.
4. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.
5. Bijarnia-Mahay S, Mohan N, Goyal D, Verma IC. Mitochondrial DNA depletion syndrome causing liver failure. Indian Pediatr. 2014;51:666–8.
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1. Indian Journal of Gastroenterology - January–February 2023 Highlights;Indian Journal of Gastroenterology;2023-02
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