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Artykuły w czasopismach na temat „Mitochondrial DNA depletion syndrome”

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Autor: Grafiati
Data publikacji: 4 czerwca 2021
Data aktualizacji: 9 marca 2023

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1

Millichap, J. Gordon. "Mitochondrial DNA Depletion Syndrome". Pediatric Neurology Briefs 16, nr 11 (1.11.2002): 82. http://dx.doi.org/10.15844/pedneurbriefs-16-11-3.

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2

Millichap, J. Gordon. "Myopathic Mitochondrial DNA Depletion Syndrome". Pediatric Neurology Briefs 17, nr 8 (1.08.2003): 62. http://dx.doi.org/10.15844/pedneurbriefs-17-8-7.

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3

Tesarova, M., J. A. Mayr, L. Wenchich, H. Hansikova, M. Elleder, K. Blahova, W. Sperl i J. Zeman. "Mitochondrial DNA Depletion in Alpers Syndrome". Neuropediatrics 35, nr 4 (lipiec 2004): 217–23. http://dx.doi.org/10.1055/s-2004-821081.

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4

Rahman, S., Taanman J-W, BN Harding i Morris Aam. "Alpers Syndrome with Mitochondrial Dna Depletion". Clinical Science 103, s47 (1.07.2002): 51P. http://dx.doi.org/10.1042/cs103051p.

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5

Filiano, James J., Michael J. Goldenthal, Alexander C. Mamourian, Cara C. Hall i José Marı́n-Garcı́a. "Mitochondrial DNA depletion in Leigh syndrome". Pediatric Neurology 26, nr 3 (marzec 2002): 239–42. http://dx.doi.org/10.1016/s0887-8994(01)00377-0.

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6

Rahman, S., J. W. Taanman i B. N. Harding. "Alpers syndrome with mitochondrial DNA depletion". Neuropathology and Applied Neurobiology 28, nr 2 (marzec 2002): 160. http://dx.doi.org/10.1046/j.1365-2990.2002.39286_32.x.

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7

Basel, Donald. "Mitochondrial DNA Depletion Syndromes". Clinics in Perinatology 47, nr 1 (marzec 2020): 123–41. http://dx.doi.org/10.1016/j.clp.2019.10.008.

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8

Wang, Liya, i Staffan Eriksson. "Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome". FEBS Letters 554, nr 3 (21.10.2003): 319–22. http://dx.doi.org/10.1016/s0014-5793(03)01181-5.

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9

Hong, Ki Teak, Byung Chan Lim, Jin Soo Moon i Jae Sung Ko. "MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome". Korean Journal of Gastroenterology 77, nr 5 (25.05.2021): 248–52. http://dx.doi.org/10.4166/kjg.2020.170.

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10

Taanman, J. W., A. G. Bodnar, J. M. Cooper, A. A. M. Morris, P. T. Clayton, J. V. Leonard i A. H. V. Schapira. "Molecular Mechanisms in Mitochondrial DNA Depletion Syndrome". Human Molecular Genetics 6, nr 6 (1.06.1997): 935–42. http://dx.doi.org/10.1093/hmg/6.6.935.

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11

Vu, T. "Navajo neurohepatopathy: A mitochondrial DNA depletion syndrome?" Hepatology 34, nr 1 (lipiec 2001): 116–20. http://dx.doi.org/10.1053/jhep.2001.25921.

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12

Saito, Keiko, Nobusuke Kimura, Nozomi Oda, Hideki Shimomura, Tomohiro Kumada, Tomoko Miyajima, Kei Murayama, Masashi Tanaka i Tatsuya Fujii. "Pyruvate therapy for mitochondrial DNA depletion syndrome". Biochimica et Biophysica Acta (BBA) - General Subjects 1820, nr 5 (maj 2012): 632–36. http://dx.doi.org/10.1016/j.bbagen.2011.08.006.

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13

Bijarnia-Mahay, Sunita, Neelam Mohan, Deepak Goyal, I. C. Verma, K. E. Elizabeth i K. Jubin. "Mitochondrial DNA depletion syndrome causing liver failure". Indian Pediatrics 51, nr 8 (sierpień 2014): 666–68. http://dx.doi.org/10.1007/s13312-014-0475-z.

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14

Dimmock, David, Lin-Ya Tang, Eric S. Schmitt i Lee-Jun C. Wong. "Quantitative Evaluation of the Mitochondrial DNA Depletion Syndrome". Clinical Chemistry 56, nr 7 (1.07.2010): 1119–27. http://dx.doi.org/10.1373/clinchem.2009.141549.

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Abstract Background: The mitochondrial DNA (mtDNA) depletion syndromes (MDDSs) are autosomal recessive disorders characterized by a reduction in cellular mtDNA content. Mutations in at least 9 genes [POLG, polymerase (DNA directed), gamma; DGUOK, deoxyguanosine kinase; TK2, thymidine kinase, mitochondrial; TYMP, thymidine phosphorylase; MPV17, MpV17 mitochondrial inner membrane protein; SUCLA2, succinate-CoA ligase, ADP-forming, beta subunit; SUCLG1, succinate-CoA ligase, alpha subunit; RRM2B, RRM2B, ribonucleotide reductase M2 B (TP53 inducible); and C10orf2, chromosome 10 open reading frame 2 (also known as TWINKLE)] have been reported to cause mtDNA depletion. In the clinical setting, a simple method to quantify mtDNA depletion would be useful before undertaking gene sequence analysis. Methods: Real-time quantitative PCR (qPCR) was used to measure the mtDNA content in blood, muscle, and liver samples and in skin fibroblast cultures from individuals suspected of mitochondrial disorders, with or without deleterious mutations in genes responsible for MDDS. Results: The mtDNA content was quantified in 776 tissue samples (blood, n = 341; muscle, n = 325; liver, n = 63; skin fibroblasts, n = 47) from control individuals. mtDNA content increased with age in muscle tissue, decreased with age in blood samples, and appeared to be unaffected by age in liver samples. In 165 samples (blood, n = 122; muscle, n = 21; liver, n = 15; skin fibroblasts, n = 7) from patients with molecularly proven MDDSs, severe mtDNA depletion was detected in liver and muscle tissue with high specificity and sensitivity. Blood samples were specific but not sensitive for detecting mtDNA depletion, and skin fibroblasts were not valuable for evaluating mtDNA depletion. Mutations in the POLG, RRM2B, and MPV17 genes were prospectively identified in 1 blood, 1 liver, and 3 muscle samples. Conclusions: Muscle and liver tissues, but not blood or skin fibroblasts, are potentially useful for rapid screening for mtDNA depletion with real-time qPCR.
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15

Hazard, Florette K., Can H. Ficicioglu, Jaya Ganesh i Eduardo D. Ruchelli. "Liver Pathology in Infantile Mitochondrial DNA Depletion Syndrome". Pediatric and Developmental Pathology 16, nr 6 (listopad 2013): 415–24. http://dx.doi.org/10.2350/12-07-1229-oa.1.

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16

Finsterer, Josef, Gabor G. Kovacs i Uwe Ahting. "Adult mitochondrial DNA depletion syndrome with mild manifestations". Neurology International 5, nr 2 (25.06.2013): 9. http://dx.doi.org/10.4081/ni.2013.e9.

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Mitochondrial DNA depletion syndrome (MDS) is usually a severe disorder of infancy or childhood, due to a reduced copy number of mtDNA molecules. MDS with only mild, non-specific clinical manifestations and onset in adulthood has not been reported. A 47-year-old Caucasian female with short stature and a history of migraine, endometriosis, Crohn’s disease, C-cell carcinoma of the thyroid gland, and a family history positive for mitochondrial disorder (2 sisters, aunt, niece), developed day-time sleepiness, exercise intolerance, and myalgias in the lower-limb muscles since age 46y. She slept 9-10 hours during the night and 2 hours after lunch daily. Clinical exam revealed sore neck muscles, bilateral ptosis, and reduced Achilles tendon reflexes exclusively. Blood tests revealed hyperlipidemia exclusively. Nerve conduction studies, needle electromyography, and cerebral and spinal magnetic resonance imaging were non-informative. Muscle biopsy revealed detached lobulated fibers with subsarcolemmal accentuation of the NADH and SDH staining. Real-time polymerase chain reaction revealed depletion of the mtDNA down to 9% of normal. MDS may be associated with a mild phenotype in adults and may not significantly progress during the first year after onset. In an adult with hypersomnia, severe tiredness, exercise intolerance, and a family history positive for mitochondrial disorder, a MDS should be considered.
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17

Ipatova, M. G., Y. S. Itkis, I. O. Bychkov, A. N. Grishina, E. L. Tumanova i E. Yu Zakharova. "MITOCHONDRIAL DNA DEPLETION SYNDROME IN A NEWBORN CHILD". Pediatria. Journal named after G.N. Speransky 97, nr 1 (12.02.2018): 71–77. http://dx.doi.org/10.24110/0031-403x-2018-97-1-71-77.

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18

Nardi, Nicolas, François Proulx, Catherine Brunel-Guiton, Luc L. Oligny, Nelson Piché, Grant A. Mitchell i Jean Sébastien Joyal. "Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13". Journal of Pediatric Intensive Care 09, nr 01 (10.10.2019): 054–59. http://dx.doi.org/10.1055/s-0039-1697620.

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AbstractNecrotizing enterocolitis (NEC) is exceptional after the neonatal period. A toddler with encephalopathy, mitochondrial myopathy, and hypertrophic cardiomyopathy developed fatal NEC and multiple organ dysfunction within 48 hours of the introduction of enteral feeding. She was subsequently found to have pathogenic mutations in FBXL4, a cause of mitochondrial DNA depletion syndrome-13. Intestinal dysmotility in the context of deficient mitochondrial respiration may have contributed to the development of NEC. Current paradigms call for early introduction of enteral nutrition to reinstate energy homeostasis. Enteral feeding should be administered with caution during metabolic crises of patients with mitochondrial DNA depletion syndromes.
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19

Nogueira, Célia, Ligia S. Almeida, Claudia Nesti, Ilaria Pezzini, Arnaldo Videira, Laura Vilarinho i Filippo M. Santorelli. "Syndromes associated with mitochondrial DNA depletion". Italian Journal of Pediatrics 40, nr 1 (2014): 34. http://dx.doi.org/10.1186/1824-7288-40-34.

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20

Deodato, Federica, Simona Lucioli, Cristiano Rizzo, Maria Chiara Meschini, Filippo M. Santorelli, Enrico Bertini, Carlo Dionisi-Vici i Rosalba Carrozzo. "Mitochondrial DNA depletion syndromes: an update". Paediatrics and Child Health 19 (październik 2009): S32—S37. http://dx.doi.org/10.1016/j.paed.2009.05.031.

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21

Rahman, S., i J. Poulton. "Diagnosis of mitochondrial DNA depletion syndromes". Archives of Disease in Childhood 94, nr 1 (1.01.2009): 3–5. http://dx.doi.org/10.1136/adc.2008.147983.

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22

Dimmick, James. "Conjugated Hyperbilirubinemia in Infancy (Mitochondrial DNA Depletion Syndrome, Liver)". Pediatric and Developmental Pathology 7, nr 6 (listopad 2004): 625–28. http://dx.doi.org/10.1007/s10024-004-5052-3.

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23

Almannai, Mohammed, Ayman W. El-Hattab i Fernando Scaglia. "Mitochondrial DNA replication: clinical syndromes". Essays in Biochemistry 62, nr 3 (27.06.2018): 297–308. http://dx.doi.org/10.1042/ebc20170101.

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Each nucleated cell contains several hundreds of mitochondria, which are unique organelles in being under dual genome control. The mitochondria contain their own DNA, the mtDNA, but most of mitochondrial proteins are encoded by nuclear genes, including all the proteins required for replication, transcription, and repair of mtDNA. MtDNA replication is a continuous process that requires coordinated action of several enzymes that are part of the mtDNA replisome. It also requires constant supply of deoxyribonucleotide triphosphates(dNTPs) and interaction with other mitochondria for mixing and unifying the mitochondrial compartment. MtDNA maintenance defects are a growing list of disorders caused by defects in nuclear genes involved in different aspects of mtDNA replication. As a result of defects in these genes, mtDNA depletion and/or multiple mtDNA deletions develop in affected tissues resulting in variable manifestations that range from adult-onset mild disease to lethal presentation early in life.
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24

Fumagalli, Monica, Dario Ronchi, Maria Francesca Bedeschi, Arianna Manini, Gloria Cristofori, Fabio Mosca, Robertino Dilena i in. "A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome". Molecular Genetics and Metabolism Reports 32 (wrzesień 2022): 100887. http://dx.doi.org/10.1016/j.ymgmr.2022.100887.

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25

Kim, Joonil, Eungu Kang, Yoonmyung Kim, Jae-Min Kim, Beom Hee Lee, Kei Murayama, Gu-Hwan Kim, In Hee Choi, Kyung Mo Kim i Han-Wook Yoo. "MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome". Molecular Genetics and Metabolism Reports 8 (wrzesień 2016): 74–76. http://dx.doi.org/10.1016/j.ymgmr.2016.06.006.

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26

Absalon, Michael J., Cary O. Harding, Daniel R. Fain, Lei Li i Kenneth J. Mack. "Leigh syndrome in an infant resulting from mitochondrial DNA depletion". Pediatric Neurology 24, nr 1 (styczeń 2001): 60–63. http://dx.doi.org/10.1016/s0887-8994(00)00226-5.

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27

Qualls, Clifford, Mario Kornfeld, Nancy Joste, Abdul-Mehdi Ali i Otto Appenzeller. "MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MPV17-NNH) revisited". eNeurologicalSci 2 (marzec 2016): 8–13. http://dx.doi.org/10.1016/j.ensci.2016.01.004.

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28

Naviaux, Robert K., i Khue V. Nguyen. "POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion". Annals of Neurology 55, nr 5 (2004): 706–12. http://dx.doi.org/10.1002/ana.20079.

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29

Naviaux, Robert K., i Khue V. Nguyen. "POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion". Annals of Neurology 58, nr 3 (2005): 491. http://dx.doi.org/10.1002/ana.20544.

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30

Poulton, J., M. Hirano, A. Spinazzola, M. Arenas Hernandez, C. Jardel, A. Lombès, B. Czermin i in. "Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1792, nr 12 (grudzień 2009): 1109–12. http://dx.doi.org/10.1016/j.bbadis.2009.08.016.

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31

Mandel, H. "The hepatic mitochondrial DNA depletion syndrome: Ultrastructural changes in liver biopsies". Hepatology 34, nr 4 (październik 2001): 776–84. http://dx.doi.org/10.1053/jhep.2001.27664.

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32

Bornstein, Belén, Estela Area, Kevin M. Flanigan, Jaya Ganesh, Parul Jayakar, Kathryn J. Swoboda, Jorida Coku i in. "Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene". Neuromuscular Disorders 18, nr 6 (czerwiec 2008): 453–59. http://dx.doi.org/10.1016/j.nmd.2008.04.006.

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33

Blake, Julian C., Jan-Willem Taanman, Andrew M. M. Morris, R. George F. Gray, J. Mark Cooper, Patrick J. McKiernan, James V. Leonard i Anthony H. V. Schapira. "Mitochondrial DNA Depletion Syndrome is Expressed in Amniotic Fluid Cell Cultures". American Journal of Pathology 155, nr 1 (lipiec 1999): 67–70. http://dx.doi.org/10.1016/s0002-9440(10)65100-0.

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34

Freisinger, Peter, Nancy Fütterer, Erwin Lankes, Klaus Gempel, Thomas M. Berger, Johannes Spalinger, Alexandra Hoerbe i in. "Hepatocerebral Mitochondrial DNA Depletion Syndrome Caused by Deoxyguanosine Kinase (DGUOK) Mutations". Archives of Neurology 63, nr 8 (1.08.2006): 1129. http://dx.doi.org/10.1001/archneur.63.8.1129.

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35

Elpeleg, Orly, Hanna Mandel i Ann Saada. "Depletion of the other genome-mitochondrial DNA depletion syndromes in humans". Journal of Molecular Medicine 80, nr 7 (24.05.2002): 389–96. http://dx.doi.org/10.1007/s00109-002-0343-5.

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36

Naviaux, Robert K., David Markusic, Bruce A. Barshop, William L. Nyhan i Richard H. Haas. "Sensitive Assay for Mitochondrial DNA Polymerase γ". Clinical Chemistry 45, nr 10 (1.10.1999): 1725–33. http://dx.doi.org/10.1093/clinchem/45.10.1725.

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Abstract Background: The mitochondrial DNA polymerase γ is the principal polymerase required for mitochondrial DNA replication. Primary or secondary deficiencies in the activity of DNA polymerase γ may lead to mitochondrial DNA depletion. We describe a sensitive and robust clinical assay for this enzyme. Methods: The assay was performed on mitochondria isolated from skeletal muscle biopsies. High-molecular weight polynucleotide reaction products were captured on ion-exchange paper, examined qualitatively by autoradiography, and quantified by scintillation counting. Results: Kinetic analysis of DNA polymerase γ by this method showed a Km for dTTP of 1.43 μmol/L and a Ki for azidothymidine triphosphate of 0.861 μmol/L. The assay was linear from 0.1 to 2 μg of mitochondrial protein. The detection limit was 30 units (30 fmol dTMP incorporated in 30 min). The linear dynamic range was three orders of magnitude; 30–30 000 units. Imprecision (CV) was 6.4% within day and 12% between days. Application of this assay to a mixed population of 38 patients referred for evaluation of mitochondrial disease revealed a distribution with a range of 0–2506 U/μg, reflecting extensive biologic variation among patients with neuromuscular disease. Conclusion: This assay provides a useful adjunct to current laboratory methods for the evaluation of patients with suspected mitochondrial DNA depletion syndromes.
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37

Suomalainen, Anu, i Pirjo Isohanni. "Mitochondrial DNA depletion syndromes – Many genes, common mechanisms". Neuromuscular Disorders 20, nr 7 (lipiec 2010): 429–37. http://dx.doi.org/10.1016/j.nmd.2010.03.017.

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38

Montero, Raquel, Manuela Grazina, Ester López-Gallardo, Julio Montoya, Paz Briones, Aleix Navarro-Sastre, John M. Land i in. "Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes". Mitochondrion 13, nr 4 (lipiec 2013): 337–41. http://dx.doi.org/10.1016/j.mito.2013.04.001.

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39

Yamazaki, Taro, Kei Murayama, Alison G. Compton, Canny Sugiana, Hiroko Harashima, Shin Amemiya, Masami Ajima i in. "Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome". Pediatrics International 56, nr 2 (6.03.2014): 180–87. http://dx.doi.org/10.1111/ped.12249.

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40

Selim, Laila, Dina Mehaney, Fayza Hassan, Randa Sabry, Reham Zeyada, Sawsan Hassan, Iman Gamal Eldin i Enrico Bertini. "Mitochondrial DNA depletion syndrome presenting with ataxia and external ophthalmoplegia: Case report". Egyptian Journal of Medical Human Genetics 13, nr 3 (październik 2012): 351–57. http://dx.doi.org/10.1016/j.ejmhg.2012.05.003.

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41

Weng, Shao-Wen, Daniel R. Boué, Brenda L. Wong, Lin-Ya Tang, Jerry R. Mendell, Deborah A. Perry, Zarife Sahenk, Gregory M. Enns i Lee-Jun C. Wong. "46. Molecular Characterization of The Myopathic Form of Mitochondrial DNA Depletion Syndrome". Mitochondrion 9, nr 1 (luty 2009): 72. http://dx.doi.org/10.1016/j.mito.2008.12.040.

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42

Brahimi, N., M. Jambou, E. Sarzi, V. Serre, N. Boddaert, S. Romano, P. de Lonlay, A. Slama, A. Munnich i A. Rötig. "The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome". Molecular Genetics and Metabolism 97, nr 3 (lipiec 2009): 221–26. http://dx.doi.org/10.1016/j.ymgme.2009.03.007.

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43

El-Hattab, Ayman W., Fang-Yuan Li, Eric Schmitt, Shulin Zhang, William J. Craigen i Lee-Jun C. Wong. "MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations". Molecular Genetics and Metabolism 99, nr 3 (marzec 2010): 300–308. http://dx.doi.org/10.1016/j.ymgme.2009.10.003.

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44

Lam, Ching-wan, Wai-Lan Yeung, Tsz-ki Ling, Ka-chung Wong i Chun-yiu Law. "Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome". Clinica Chimica Acta 496 (wrzesień 2019): 93–99. http://dx.doi.org/10.1016/j.cca.2019.06.028.

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45

Tadiboyina, Venu T., Anthony Rupar, Paul Atkison, Annette Feigenbaum, Jonathan Kronick, Jian Wang i Robert A. Hegele. "Novel mutation inDGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria". American Journal of Medical Genetics Part A 135A, nr 3 (2005): 289–91. http://dx.doi.org/10.1002/ajmg.a.30748.

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46

Castro Macías, J. I., I. Quijas Aldana, G. Santos Vázquez i M. O. Díaz Campos. "Mitochondrial DNA depletion syndromes. Case report and literature review". Journal of the Neurological Sciences 381 (październik 2017): 696. http://dx.doi.org/10.1016/j.jns.2017.08.1960.

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47

Spinazzola, A., F. Invernizzi, F. Carrara, E. Lamantea, A. Donati, M. DiRocco, I. Giordano i in. "Clinical and molecular features of mitochondrial DNA depletion syndromes". Journal of Inherited Metabolic Disease 32, nr 2 (27.12.2008): 143–58. http://dx.doi.org/10.1007/s10545-008-1038-z.

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48

Neagu, Alexandra-Cristina, Magdalena Budișteanu, Dan-Cristian Gheorghe, Adela-Ioana Mocanu i Horia Mocanu. "Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature". Medicina 58, nr 9 (9.09.2022): 1252. http://dx.doi.org/10.3390/medicina58091252.

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(1) Background: In this paper, we report on three cases of hypoacusis as part of a complex phenotype and some rare gene variants. An extensive review of literature completes the newly reported clinical and genetic information. (2) Methods: The cases range from 2- to 11-year-old boys, all with a complex clinical picture and hearing impairment. In all cases, whole exome sequencing (WES) was performed, in the first case in association with mitochondrial DNA study. (3) Results: The detected variants were: two heterozygous variants in the TWNK gene, one likely pathogenic and another of uncertain clinical significance (autosomal recessive mitochondrial DNA depletion syndrome type 7—hepatocerebral type); heterozygous variants of uncertain significance PACS2 and SYT2 genes (autosomal dominant early infantile epileptic encephalopathy) and a homozygous variant of uncertain significance in SUCLG1 gene (mitochondrial DNA depletion syndrome 9). Some of these genes have never been previously reported as associated with hearing problems. (4) Conclusions: Our cases bring new insights into some rare genetic syndromes. Although the role of TWNK gene in hearing impairment is clear and accordingly reflected in published literature as well as in the present article, for the presented gene variants, a correlation to hearing problems could not yet be established and requires more scientific data. We consider that further studies are necessary for a better understanding of the role of these variants.
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AlSaman, Abdulaziz, Hoda Tomoum, Federica Invernizzi i Massimo Zeviani. "Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene". Saudi Journal of Gastroenterology 18, nr 4 (2012): 285. http://dx.doi.org/10.4103/1319-3767.98439.

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Keshavan, Nandaki, Jose Abdenur, Glenn Anderson, Zahra Assouline, Giulia Barcia, Lamia Bouhikbar, Anupam Chakrapani i in. "The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency". Genetics in Medicine 22, nr 1 (29.08.2019): 199–209. http://dx.doi.org/10.1038/s41436-019-0613-z.

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