المؤلفون: DENG Lin, LU Jun

المصدر: Zhongguo quanke yixue, Vol 27, Iss 29, Pp 3704-3708 (2024)

مصطلحات موضوعية: rrm2b gene, mitochondrial dna depletion syndrome 8a, mitochondrial dna depletion syndrome 8b, genetic testing, whole-exome sequencing, Medicine

وصف الملف: electronic resource

Relation: https://www.chinagp.net/fileup/1007-9572/PDF/20230520.pdf; https://doaj.org/toc/1007-9572

URL الوصول: https://doaj.org/article/9c1197970b2a4c4cb96dfb472ac65469

المؤلفون: Kohta Nakamura, Yukiko Yatsuka, Sachie Naito, Akira Hasegawa, Takeya Kasukawa, Atsushi Kondo, Yoshihito Kishita, Yohei Sugiyama, Takanori Onuki, Tomohiro Ebihara, Tomoko Tsuruoka, Takuya Fushimi, Akira Ohtake, Kei Murayama, Atsuko Imai‐Okazaki, Yasushi Okazaki

المصدر: Molecular Genetics & Genomic Medicine, Vol 13, Iss 1, Pp n/a-n/a (2025)

مصطلحات موضوعية: genetic analysis, mitochondrial disease, mitochondrial DNA depletion syndrome, mitochondrial respiratory chain complex deficiencies, Sengers syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/794e5d51c14243d8ac178d74e92b9871

المؤلفون: SONG Wenjie, FAN Yue, LI Xu, LIU Yaping, DAI Yi, LIU Xingrong, FENG Feng, CHEN Xiaowei

المصدر: 罕见病研究, Vol 3, Iss 3, Pp 329-334 (2024)

مصطلحات موضوعية: mitochondrial dna depletion syndrome type 7(hepatocerebral type), twnk gene, severe sensorineural hearing loss, ataxia, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2097-0501

URL الوصول: https://doaj.org/article/47f1074dcd9a4689ae66726da306e342

المؤلفون: Liu-Yuan Wei, Xiu-Qi Chen, Li Huang, Qing-Wen Shan, Qing Tang

المصدر: Frontiers in Surgery, Vol 11 (2024)

مصطلحات موضوعية: mitochondrial DNA depletion syndrome, mitochondrial disease, MPV17 gene, liver transplant, chidren, Surgery, RD1-811

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fsurg.2024.1348806/full; https://doaj.org/toc/2296-875X

URL الوصول: https://doaj.org/article/b7b09c359eb54948adfb5003686da897

المؤلفون: Alice Ramboux, Alain Poncelet, Philippe Clapuyt, Isabelle Scheers, Etienne Sokal, Raymond Reding, Xavier Stephenne

المصدر: Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-4 (2023)

مصطلحات موضوعية: Deoxyguanosine kinase deficiency, Mitochondrial DNA depletion syndrome, Mitochondriopathy, Amyotrophy, Recurrent spontaneous pneumothorax, Case report, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1752-1947

URL الوصول: https://doaj.org/article/f2a024767a404ad4887f4dd0f73102cf

المؤلفون: Ikeri Kelechi, Quinones Cardona Vilmaris, Joshi Swosti, Menkiti Ogechukwu

المصدر: The Journal of ExtraCorporeal Technology, Vol 55, Iss 3, Pp 147-152 (2023)

مصطلحات موضوعية: extracorporeal membrane oxygenation (ecmo), genetic, pallister-killian mosaic syndrome, mitochondrial dna depletion syndrome, alveolar capillary dysplasia (acd), Medicine

وصف الملف: electronic resource

Relation: https://ject.edpsciences.org/articles/ject/full_html/2023/03/ject230006/ject230006.html; https://doaj.org/toc/0022-1058; https://doaj.org/toc/2969-8960

URL الوصول: https://doaj.org/article/83a31cf5859146c78cdc542814a066f7

المؤلفون: Eszter Dombi, Tony Marinaki, Paolo Spingardi, Val Millar, Nastasia Hadjichristou, Janet Carver, Iain G. Johnston, Carl Fratter, Joanna Poulton

المصدر: Frontiers in Cell and Developmental Biology, Vol 12 (2024)

مصطلحات موضوعية: mitochondrial DNA, mitochondrial DNA depletion syndrome, high-content imaging, nucleoside bypass therapy, heavy isotope labelling mass spectroscopy, alpers syndrome, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2024.1260496/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/442c27504d594d649cab9edffe962c10

المؤلفون: Yanjun Wang, Ling Hang, Weihua Shou, Cuifen Li, Fangling Dong, Xingxing Feng, Ruohong Jin, Bin Li, Shufang Xiao

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: mitochondrial DNA depletion syndrome, RRM2B, whole-exome sequencing, disease spectrum, disease etiology, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1363728/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/4c9a4b538e6b40a19daa0546d7dc81b2

المؤلفون: Montaha Almudhry, Arushi Gahlot Saini, Mohammed A. Al-Omari, Yashu Sharma, Maryam Nabavi Nouri, C. Anthony Rupar, Chitra Prasad, Andrea C. Yu, Savita Verma Attri, Asuri Narayan Prasad

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: methylmalonic acid, mitochondrial DNA depletion syndrome, SUCLG1, SUCLA2, mitochondrial disorder, dystonia, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1265115/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/95cf92e5f71543ae952641731392dc85

المؤلفون: Khamis, Sonia, Mitakidou, Maria R, Champion, Michael, Goyal, Sushma, Jones, Rachel L, Siddiqui, Ata, Sabanathan, Saraswathy, Hedderly, Tammy, Lin, Jean-Pierre, Jungbluth, Heinz, Papandreou, Apostolos

المصدر: Neurology , 100 (1) pp. 30-37. (2023)

مصطلحات موضوعية: TWNK, biomarkers, case report, mitochondrial DNA depletion syndrome (MDDS), next generation sequencing

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10156257/1/WNL.0000000000201385.full.pdf; https://discovery.ucl.ac.uk/id/eprint/10156257/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10156257/1/WNL.0000000000201385.full.pdf
https://discovery.ucl.ac.uk/id/eprint/10156257/

المؤلفون: Simon Lagies, Daqiang Pan, Daniel A. Mohl, Dietmar A. Plattner, Ian E. Gentle, Bernd Kammerer

المصدر: Cells; Volume 12; Issue 5; Pages: 692

مصطلحات موضوعية: compartment-specific metabolomics, mitochondria, yeast, sym1, lysine auxotroph, mitochondrial DNA depletion syndrome, MDDS

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/cells12050692

الاتاحة: https://doi.org/10.3390/cells12050692

المؤلفون: Yi‐ming Chen, Wei Chen, Yue Xu, Chao‐sheng Lu, Mian‐mian Zhu, Rong‐yue Sun, Yihong Wang, Yuan Chen, Jiaming Shi, Dan Wang

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 9, Pp n/a-n/a (2022)

مصطلحات موضوعية: compound heterozygous variants, mitochondrial DNA depletion syndrome 9, mitochondrial encephlomyopathy, SUCLG1, whole exome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/5c46ad19e3ca4d9894bc80efdd6216bc

المؤلفون: Ki Teak Hong, Byung Chan Lim, Jin Soo Moon, Jae Sung Ko

المصدر: The Korean Journal of Gastroenterology, Vol 77, Iss 5, Pp 248-252 (2021)

مصطلحات موضوعية: mpv17 protein, mitochondrial dna depletion syndrome, hepatocerebral form, whole exome sequencing, Medicine

وصف الملف: electronic resource

Relation: http://www.kjg.or.kr/journal/view.html?uid=5706&vmd=Full; https://doaj.org/toc/1598-9992; https://doaj.org/toc/2233-6869

URL الوصول: https://doaj.org/article/4bb649f7e3344ecd871657ccf67f14a8

المؤلفون: Kazuhiro HANO, Maho GOTO, Masanori TSUKAMOTO, Michi ETO, Rei NISHIMURA, Takashi HITOSUGI, Takeshi YOKOYAMA, Yuriko OTA, 一杉 岳, 塚本 真規, 太田 百合子, 後藤 満帆, 横山 武志, 羽野 和宏, 衛藤 理, 西村 怜

المصدر: 日本歯科麻酔学会雑誌 / Journal of Japanese Dental Society of Anesthesiology. 2023, 51(1):1

المؤلفون: Haiying Wang, Yijun Han, Shenwei Li, Yunan Chen, Yafen Chen, Jing Wang, Yuqing Zhang, Yawen Zhang, Jingsuo Wang, Yong Xia, Jinxiang Yuan

المصدر: Frontiers in Cardiovascular Medicine, Vol 8 (2022)

مصطلحات موضوعية: mitochondrial DNA depletion syndrome, nuclear gene mutation, mtDNA, cardiac disease, ATP, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcvm.2021.808115/full; https://doaj.org/toc/2297-055X

URL الوصول: https://doaj.org/article/93877eb76bb54f0fa2ba3213d0bf79df

المؤلفون: Ghazale Mahjoub, Parham Habibzadeh, Hassan Dastsooz, Malihe Mirzaei, Arghavan Kavosi, Laila Jamali, Haniyeh Javanmardi, Pegah Katibeh, Mohammad Ali Faghihi, Seyed Alireza Dastgheib

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Mitochondrial DNA depletion syndrome, DGUOK, MPV17, Mitochondrial disorders, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-019-0893-9; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/ffc947feed9d4b5c9997e3d8b6e788b9

المؤلفون: Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai‐Okazaki, Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)

مصطلحات موضوعية: cristae, MICOS complex, mitochondrial disease, mitochondrial DNA depletion syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/e50b0a400ee94b08aec7f77989654e0e

المؤلفون: Yanjun Wang, Ling Hang, Weihua Shou, Cuifen Li, Fangling Dong, Xingxing Feng, Ruohong Jin, Bin Li, Shufang Xiao

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, mitochondrial DNA depletion syndrome, RRM2B, whole-exome sequencing, disease spectrum, disease etiology

Relation: https://figshare.com/articles/dataset/Datasheet1_Case_Report_A_novel_RRM2B_variant_in_a_Chinese_infant_with_mitochondrial_DNA_depletion_syndrome_and_collective_analyses_of_RRM2B_variants_for_disease_etiology_pdf/25687968

الاتاحة: https://doi.org/10.3389/fped.2024.1363728.s001
https://figshare.com/articles/dataset/Datasheet1_Case_Report_A_novel_RRM2B_variant_in_a_Chinese_infant_with_mitochondrial_DNA_depletion_syndrome_and_collective_analyses_of_RRM2B_variants_for_disease_etiology_pdf/25687968

المؤلفون: Eszter Dombi, Tony Marinaki, Paolo Spingardi, Val Millar, Nastasia Hadjichristou, Janet Carver, Iain G. Johnston, Carl Fratter, Joanna Poulton

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), mitochondrial DNA, mitochondrial DNA depletion syndrome, high-content imaging, nucleoside bypass therapy, heavy isotope labelling mass spectroscopy, alpers syndrome, POLG, TWNK

Relation: https://figshare.com/articles/dataset/DataSheet1_Nucleoside_supplements_as_treatments_for_mitochondrial_DNA_depletion_syndrome_docx/25573923

الاتاحة: https://doi.org/10.3389/fcell.2024.1260496.s001
https://figshare.com/articles/dataset/DataSheet1_Nucleoside_supplements_as_treatments_for_mitochondrial_DNA_depletion_syndrome_docx/25573923

المؤلفون: Laura Martorano, Margherita Peron, Claudio Laquatra, Elisa Lidron, Nicola Facchinello, Giacomo Meneghetti, Natascia Tiso, Andrea Rasola, Daniele Ghezzi, Francesco Argenton

المصدر: Disease Models & Mechanisms, Vol 12, Iss 3 (2019)

مصطلحات موضوعية: Dihydroorotate dehydrogenase, Iridophore, Mitochondrial DNA depletion syndrome, Pyrimidine, Vitamin B13, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/12/3/dmm037226; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/d5f1f046820b404d9b3411bb8bccb21b