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Pediatric and Developmental Pathology, ISSN 1093-5266, 9/2018, Volume 21, Issue 5, pp. 507 - 508
Letter to the EditorComment on : Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene. [Pediatr Dev Pathol. 2017] 
PEDIATRICS | MUTATIONS | PATHOLOGY | DNA, Mitochondrial - genetics | Muscle, Skeletal | Mutation | Humans | Life Sciences | Human health and pathology | DNA, Mitochondrial/genetics
Journal Article
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, ISSN 1093-5266, 09/2018, Volume 21, Issue 5, pp. 509 - 510
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 12/2017, Volume 26, Issue 23, pp. 4588 - 4605
Mitochondrial disorders affecting oxidative phosphorylation (OxPhos) are caused by mutations in both the nuclear and mitochondrial genomes. One promising... 
MAMMALIAN TARGET | ACTIVATED PROTEIN-KINASE | MTOR INHIBITION | LEIGH-SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | GENETICS & HEREDITY | MITOCHONDRIAL-DNA MAINTENANCE | GENE-EXPRESSION | 2 DEFICIENCY | MICE | DIFFERENTIAL EXPRESSION ANALYSIS
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 09/2019, Volume 496, pp. 93 - 99
Mitochondrial DNA depletion syndrome is a group of heterogeneous diseases with non-specific presentation. The common feature is the quantitative depletion of... 
Clinical whole-exome sequencing | DTYMK | Salvage pathway | Mitochondrial DNA depletion syndrome | THYMIDINE KINASE | IDENTIFICATION | FAMILY | MTDNA LEVELS | DATABASE | MUTATION | TRIPHOSPHATE | PATIENT | MEDICAL LABORATORY TECHNOLOGY | IN-VITRO SUPPLEMENTATION | MANIFESTATIONS | Genes | Mitochondrial DNA
Journal Article
BBA - General Subjects, ISSN 0304-4165, 05/2012, Volume 1820, Issue 5, pp. 632 - 636
Mitochondrial DNA depletion syndromes are a group of heterogeneous autosomal recessive disorders associated with a severe reduction in mitochondrial DNA in the... 
NAD | Mitochondrial diseases | Mitochondrial DNA depletion syndrome | Treatment | Lactate-to-pyruvate ratio | Pyruvate therapy | CELLS | MNGIE | BIOCHEMISTRY & MOLECULAR BIOLOGY | DEFICIENCY | DISEASES | BIOPHYSICS | MTDNA | NAD(+) | DNA | Mitochondrial DNA
Journal Article
Canadian Journal of Neurological Sciences, ISSN 0317-1671, 09/2013, Volume 40, Issue 5, pp. 635 - 644
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 4/2009, Volume 32, Issue 2, pp. 143 - 158
Journal Article
ISSN 1932-6203, 2018
Mutations in mitochondrial DNA (mtDNA) have been linked to a variety of metabolic, neurological and muscular diseases which can present at any time throughout... 
Cytology | Fibroblasts | Mitochondrial DNA | Biochemistry | Mutation (Biology)
Journal Article