Works matching Mitochondrial DNA depletion syndromes
Results: 160
A Yeast-Based Repurposing Approach for the Treatment of Mitochondrial DNA Depletion Syndromes Led to the Identification of Molecules Able to Modulate the dNTP Pool.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 22, p. 12223, doi. 10.3390/ijms222212223
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- Article
A monoclonal antibody raised against bacterially expressed MPV17 sequences shows peroxisomal, endosomal and lysosomal localisation in U2OS cells.
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- BMC Research Notes, 2016, v. 9, p. 1, doi. 10.1186/s13104-016-1939-0
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- Article
Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.
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- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0893-9
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- Article
Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies.
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- Molecular Syndromology, 2024, v. 15, n. 6, p. 450, doi. 10.1159/000539034
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- Article
A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.
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- 2015
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- Publication type:
- journal article
Syndromes associated with mitochondrial DNA depletion.
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- Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 1, doi. 10.1186/1824-7288-40-34
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- Article
MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy.
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- Clinical Genetics, 2019, v. 95, n. 1, p. 182, doi. 10.1111/cge.13462
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- Article
Decoding the mitochondria without a code: mechanistic insights into mitochondrial DNA depletion syndromes.
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- Journal of Biosciences, 2024, v. 49, n. 1, p. 1, doi. 10.1007/s12038-024-00428-9
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- Article
DGUOK 相关线粒体DNA 耗竭综合征 1 例报道及文献复习.
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- Chinese Journal of Contemporary Pediatrics, 2020, v. 22, n. 3, p. 274, doi. 10.7499/j.issn.1008-8830.2020.03.017
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- Article
DGUOK 相关线粒体DNA 耗竭综合征 1 例报道及文献复习.
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- Chinese Journal of Contemporary Pediatrics, 2020, v. 22, n. 2, p. 274, doi. 10.7499/j.issn.1008-8830.2020.03.017
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- Article
Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series.
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- Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1265115
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- Article
A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1427
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- Article
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome.
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- Pediatrics International, 2014, v. 56, n. 2, p. 180, doi. 10.1111/ped.12249
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- Article
Rare health conditions 62: acute flaccid myelitis, infantile onset encephalomyopathy mitochondrial DNA depletion syndrome and chronic granulomatous disease.
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- British Journal of Healthcare Assistants, 2022, v. 16, n. 9, p. 422, doi. 10.12968/bjha.2022.16.9.422
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- Article
Identification of a single MPV17 nonsense‐associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.
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- Clinical Genetics, 2018, v. 93, n. 5, p. 1093, doi. 10.1111/cge.13208
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- Article
Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome
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- FEBS Letters, 2003, v. 554, n. 3, p. 319, doi. 10.1016/S0014-5793(03)01181-5
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- Article
Mitochondrial DNA depletion syndrome causing liver failure.
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- Indian Pediatrics, 2014, v. 51, n. 8, p. 666, doi. 10.1007/s13312-014-0475-z
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- Article
Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1268135
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- Article
Fulminant Neonatal Liver Failure in MPV 17-Related Mitochondrial DNA Depletion Syndrome.
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- 2023
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- Publication type:
- Case Study
Two novel SUCLA2 variants cause mitochondrial DNA depletion syndrome, type 5 in two siblings.
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- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1394150
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- Article
FBXL4 -Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00039
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- Article
Mitochondrial DNA depletion syndrome presenting with ataxia and external ophthalmoplegia: Case report.
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- 2012
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- Publication type:
- Case Study
Novel biallelic TK2 mutations cause mitochondrial DNA depletion syndrome with infantile early-onset lipid storage myopathy.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03639-x
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- Article
Liver Pathology in Infantile Mitochondrial DNA Depletion Syndrome.
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- Pediatric & Developmental Pathology, 2013, v. 16, n. 6, p. 415, doi. 10.2350/12-07-1229-OA.1
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- Article
Conjugated Hyperbilirubinemia in Infancy (Mitochondrial DNA Depletion Syndrome, Liver).
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- Pediatric & Developmental Pathology, 2004, v. 7, n. 6, p. 625, doi. 10.1007/s10024-004-5052-3
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- Article
Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report.
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- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.664278
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- Article
Adult mitochondrial DNA depletion syndrome with mild manifestations.
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- 2013
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- Publication type:
- Case Study
Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 G.
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- 2012
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- Publication type:
- Case Study
Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report.
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- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0875-y
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- Publication type:
- Article
The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13.
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- Global Medical Genetics, 2023, v. 10, n. 4, p. 278, doi. 10.1055/s-0043-1775979
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- Article
Mitochondrial DNA Depletion Syndrome-An Unusual Reason for Interstage Attrition after the Modified Stage 1 Norwood Operation.
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- Congenital Heart Disease, 2013, v. 8, n. 1, p. E20, doi. 10.1111/j.1747-0803.2011.00569.x
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- Article
A Mild Phenotype of Mitochondrial DNA Depletion Syndrome Type 13 with a Novel FBXL4 Variant.
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- Molecular Syndromology, 2021, v. 12, n. 5, p. 294, doi. 10.1159/000515928
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- Article
The United Kingdom Sets Limits on Experimental Treatments: The Case of Charlie Gard.
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- 2017
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- Publication type:
- journal article
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 184, doi. 10.1038/ejhg.2013.112
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- Article
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.
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- Journal of Human Genetics, 2011, v. 56, n. 12, p. 834, doi. 10.1038/jhg.2011.112
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- Article
Corrigendum to: Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.
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- Brain: A Journal of Neurology, 2021, v. 144, n. 11, p. e88, doi. 10.1093/brain/awab324
- Publication type:
- Article
The role of the Mpv17 protein mutations of which cause mitochondrial DNA depletion syndrome (MDDS): lessons from homologs in different species.
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- Biological Chemistry, 2015, v. 396, n. 1, p. 13, doi. 10.1515/hsz-2014-0198
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- Article
Impact of N221S missense mutation in human ribonucleotide reductase small subunit b on mitochondrial DNA depletion syndrome.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-47284-5
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- Article
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.
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- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2459
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- Article
Global Genetic Determinants of Mitochondrial DNA Copy Number.
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- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0105242
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- Article
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.
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- 2020
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- Publication type:
- journal article
Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
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- Journal of Molecular Medicine, 2002, v. 80, n. 7, p. 389, doi. 10.1007/s00109-002-0343-5
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- Publication type:
- Article
Novel Deoxyguanosine Kinase Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome.
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- Journal of Child Neurology, 2015, v. 30, n. 1, p. 124, doi. 10.1177/0883073813517000
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- Publication type:
- Article
Excessive BNIP3- and BNIP3L-dependent mitophagy underlies the pathogenesis of FBXL4-mutated mitochondrial DNA depletion syndrome.
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- Autophagy, 2024, v. 20, n. 2, p. 460, doi. 10.1080/15548627.2023.2274260
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- Article
When best interests are not good enough.
- Published in:
- 2017
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- Publication type:
- journal article
Charlie Gard case raises questions about ethical treatment versus experimental medicine.
- Published in:
- 2017
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- Publication type:
- Case Study
Generation of Rho Zero Cells: Visualization and Quantification of the mtDNA Depletion Process.
- Published in:
- International Journal of Molecular Sciences, 2015, v. 16, n. 5, p. 9850, doi. 10.3390/ijms16059850
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- Article
Giant Cell Hepatitis in Mitochondrial DNA Depletion Syndrome Type 6.
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- Tropical Gastroenterology, 2020, v. 41, n. 1, p. 32
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- Article
MPV17 관련 간뇌 사립체 DNA 고갈 증후군.
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- Korean Journal of Gastroenterology, 2021, v. 77, n. 5, p. 248, doi. 10.4166/kjg.2020.170
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- Article
Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome.
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- 2025
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- Publication type:
- Case Study