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Research article

First published 2015-4

Mitochondria DNA Depletion Syndrome in a Infant with Multiple Congenital Malformations,Severe Myopathy,and Prolonged Postoperative Paralysis

Mark Thomas, Vincenzo Salpietro, Natalie Canham [...]

Journal of Child Neurology

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Research article

First published 2013-11

Liver Pathology in Infantile Mitochondrial DNA Depletion Syndrome

Florette K. Hazard, Can H. Ficicioglu, Jaya Ganesh [...]

Pediatric and Developmental Pathology

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Research article

First published 2013-3

Mitochondrial Depletion Causes Neonatal-Onset Leigh Syndrome,Myopathy,and Renal Tubulopathy

Inn-Chi Lee, Ni-Chung Lee, Jang-Jih Lu [...]

Journal of Child Neurology

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Research article

First published 2015-1

Novel Deoxyguanosine Kinase Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome

Taner Sezer, Figen Ozçay, Oya Balci [...]

Journal of Child Neurology

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Research article

First published 2014-9

Defects of Mitochondrial DNA Replication

William C. Copeland

Journal of Child Neurology

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Letter

First published 2018-9

TK2 -related Myopathic Mitochondrial Depletion Syndrome

Josef Finsterer, Sinda Zarrouk-Mahjoub

Pediatric and Developmental Pathology

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Review article

First published 2011-7

Infantile-Onset Disorders of Mitochondrial Replication and Protein Synthesis

Célia Nogueira, Rosalba Carrozzo, Laura Vilarinho [...]

Journal of Child Neurology

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Case report

First published 2017

Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene

Elena Martín-Hernández, María Teresa García-Silva, Pilar Quijada-Fraile [...]

Pediatric and Developmental Pathology

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Research article

First published 2004-11

Conjugated Hyperbilirubinemia in Infancy (Mitochondrial DNA Depletion Syndrome,Liver)

James Dimmick

Pediatric and Developmental Pathology

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Letter

First published 2018-9

Author’s Reply: TK2-related Myopathic Mitochondrial Depletion Syndrome

Elena Martín-Hernández, Francisco Martínez-Azorín

Pediatric and Developmental Pathology

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