Mitochondrial DNA depletion syndrome causing liver failure-Reference-Cited by-同舟云学术

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Mitochondrial DNA depletion syndrome causing liver failure

Published:2014-08 Issue:8 Volume:51 Page:666-668
ISSN:0019-6061
Container-title:Indian Pediatrics
language:en
Short-container-title:Indian Pediatr

Author:

Bijarnia-Mahay Sunita,Mohan Neelam,Goyal Deepak,Verma I. C.,Elizabeth K. E.,Jubin K.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s13312-014-0475-z.pdf

Reference17 articles.

1. Scaglia F. Nuclear gene defects in mitochondrial disorders. Methods Mol Biol. 2012;837:17–34.

2. Nogueira C, Carrozzo R, Vilarinho L, Santorelli FM. Infantile-onset disorders of mitochondrial replication and protein synthesis. J Child Neurol. 2011;26:866–75.

3. Suomalainen A, Isohanni P. Mitochondrial DNA depletion syndromes — many genes, common mechanisms. Neuromuscul Disord. 2010;20:429–37.

4. El-Hattab AW, Scaglia F. Mitochondrial DNA depletion syndromes: Review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics. 2013;10:186–98.

5. Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, et al. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain. 2012;135:3404–15.

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1. MPV17 mutation–related mitochondrial DNA depletion syndrome: A case series in infants;Indian Journal of Gastroenterology;2023-02-08

2. MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile;Frontiers in Cellular Neuroscience;2021-03-17

3. Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype–Phenotype Correlation of POLG c.3286C>T Variant;International Journal of Neonatal Screening;2021-02-05

4. Mitochondrial DNA Depletion Syndrome: Mimicker for Hereditary Tyrosinemia;Indian Journal of Pediatrics;2020-11-26

5. POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings;Brain Sciences;2020-10-23

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