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- [1] HISTOPATHOLOGICAL LIVER FINDINGS IN PATIENTS WITH HEPATOCEREBRAL MITOCHONDRIAL DEPLETION SYNDROME WITH DEFINED MOLECULAR BASISPOLISH JOURNAL OF PATHOLOGY, 2018, 69 (03) : 292 - 298Pronicki, Maciej论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Dept Pathol, Aleja Dzieci Polskich 20, PL-04730 Warsaw, Poland Childrens Mem Hlth Inst, Dept Pathol, Aleja Dzieci Polskich 20, PL-04730 Warsaw, PolandPiekutowska-Abramczuk, Dorota论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Dept Genet, Warsaw, Poland Childrens Mem Hlth Inst, Dept Pathol, Aleja Dzieci Polskich 20, PL-04730 Warsaw, PolandRokicki, Dariusz论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Dept Paediat Nutr & Metab Disorders, Warsaw, Poland Childrens Mem Hlth Inst, Dept Pathol, Aleja Dzieci Polskich 20, PL-04730 Warsaw, PolandIwanicka-Pronicka, Katarzyna论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Dept Genet, Warsaw, Poland Childrens Mem Hlth Inst, Dept Audiol & Phoniatr, Warsaw, Poland Childrens Mem Hlth Inst, Dept Pathol, Aleja Dzieci Polskich 20, PL-04730 Warsaw, PolandGrajkowska, Wieslawa论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Dept Pathol, Aleja Dzieci Polskich 20, PL-04730 Warsaw, Poland Childrens Mem Hlth Inst, Dept Pathol, Aleja Dzieci Polskich 20, PL-04730 Warsaw, Poland
- [2] Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantationORPHANET JOURNAL OF RARE DISEASES, 2020, 15 (01)Shimura, Masaru论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanKuranobu, Naomi论文数: 0 引用数: 0 h-index: 0机构: Tottori Univ, Div Pediat & Perinatol, Fac Med, 36-1 Nishi Cho, Yonago, Tottori 6838504, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanOgawa-Tominaga, Minako论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanAkiyama, Nana论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanSugiyama, Yohei论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanEbihara, Tomohiro论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanFushimi, Takuya论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanIchimoto, Keiko论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanMatsunaga, Ayako论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanTsuruoka, Tomoko论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, Japan论文数: 引用数: h-index:机构:Umetsu, Shuichiro论文数: 0 引用数: 0 h-index: 0机构: Saiseikai Yokohama City Tobu Hosp, Dept Pediat Hepatol & Gastroenterol, Tsurumi Ku, 3-6-1 Shimosueyoshi, Yokohama, Kanagawa 2300012, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanInui, Ayano论文数: 0 引用数: 0 h-index: 0机构: Saiseikai Yokohama City Tobu Hosp, Dept Pediat Hepatol & Gastroenterol, Tsurumi Ku, 3-6-1 Shimosueyoshi, Yokohama, Kanagawa 2300012, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanFujisawa, Tomoo论文数: 0 引用数: 0 h-index: 0机构: Saiseikai Yokohama City Tobu Hosp, Dept Pediat Hepatol & Gastroenterol, Tsurumi Ku, 3-6-1 Shimosueyoshi, Yokohama, Kanagawa 2300012, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanTanikawa, Ken论文数: 0 引用数: 0 h-index: 0机构: Yame Gen Hosp, Dept Diagnost Pathol, 540-2 Takatsuka, Yame, Fukuoka 8340034, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanIto, Reiko论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Child Hlth & Dev, Dept Gen Pediat & Interdisciplinary Med, Setagaya Ku, 2-10-1 Okura, Tokyo 1578535, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanFukuda, Akinari论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Child Hlth & Dev, Organ Transplantat Ctr, Setagaya Ku, 2-10-1 Okura, Tokyo 1578535, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, Japan论文数: 引用数: h-index:机构:Kaji, Shunsaku论文数: 0 引用数: 0 h-index: 0机构: Tsuyama Chuo Hosp, Dept Pediat, Kawasaki 1756, Tsuyama, Okayama 7080841, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanKasahara, Mureo论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Child Hlth & Dev, Organ Transplantat Ctr, Setagaya Ku, 2-10-1 Okura, Tokyo 1578535, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanShiraki, Kazuo论文数: 0 引用数: 0 h-index: 0机构: Tottori Univ, Div Pediat & Perinatol, Fac Med, 36-1 Nishi Cho, Yonago, Tottori 6838504, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanOhtake, Akira论文数: 0 引用数: 0 h-index: 0机构: Saitama Med Univ, Fac Med, Dept Pediat & Clin Genom, 38 Morohongo, Moroyama, Saitama 3500495, Japan Saitama Med Univ Hosp, Ctr Intractable Dis, 38 Morohongo, Moroyama, Saitama 3500495, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanOkazaki, Yasushi论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Intractable Dis Res Ctr, Grad Sch Med, Diagnost & Therapeut Intractable Dis,Bunkyo Ku, Hongo 2-1-1, Tokyo 1138421, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, JapanMurayama, Kei论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, Japan Chiba Childrens Hosp, Ctr Med Genet, Dept Metab, Midori Ku, 579-1 Heta Cho, Chiba 2660007, Japan
- [3] Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantationOrphanet Journal of Rare Diseases, 15Masaru Shimura论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismNaomi Kuranobu论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismMinako Ogawa-Tominaga论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismNana Akiyama论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismYohei Sugiyama论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismTomohiro Ebihara论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismTakuya Fushimi论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismKeiko Ichimoto论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismAyako Matsunaga论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismTomoko Tsuruoka论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismYoshihito Kishita论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismShuichiro Umetsu论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismAyano Inui论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismTomoo Fujisawa论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismKen Tanikawa论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismReiko Ito论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismAkinari Fukuda论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismJun Murakami论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismShunsaku Kaji论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismMureo Kasahara论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismKazuo Shiraki论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismAkira Ohtake论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismYasushi Okazaki论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of MetabolismKei Murayama论文数: 0 引用数: 0 h-index: 0机构: Chiba Children’s Hospital,Center for Medical Genetics, Department of Metabolism
- [4] Hepatocerebral form of mitochondrial DNA depletion syndromeARCHIVES OF NEUROLOGY, 2008, 65 (08) : 1108 - 1113Spinazzola, Antonella论文数: 0 引用数: 0 h-index: 0机构: C Besta Neurol Inst Fdn, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr, Study Childrens Mitochondrial Disorders, I-20126 Milan, Italy C Besta Neurol Inst Fdn, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr, Study Childrens Mitochondrial Disorders, I-20126 Milan, ItalySanter, Rene论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany C Besta Neurol Inst Fdn, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr, Study Childrens Mitochondrial Disorders, I-20126 Milan, ItalyAkman, Orhan H.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, Med Ctr, New York, NY USA C Besta Neurol Inst Fdn, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr, Study Childrens Mitochondrial Disorders, I-20126 Milan, ItalyTsiakas, Kostas论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany C Besta Neurol Inst Fdn, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr, Study Childrens Mitochondrial Disorders, I-20126 Milan, ItalySchaefer, Hansjoerg论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pathol, Hamburg, Germany C Besta Neurol Inst Fdn, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr, Study Childrens Mitochondrial Disorders, I-20126 Milan, ItalyDing, Xiaoqi论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Neuroradiol, Hamburg, Germany C Besta Neurol Inst Fdn, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr, Study Childrens Mitochondrial Disorders, I-20126 Milan, ItalyKaradimas, Charalampos L.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, Med Ctr, New York, NY USA C Besta Neurol Inst Fdn, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr, Study Childrens Mitochondrial Disorders, I-20126 Milan, ItalyShanske, Sara论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, Med Ctr, New York, NY USA C Besta Neurol Inst Fdn, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr, Study Childrens Mitochondrial Disorders, I-20126 Milan, ItalyGanesh, Jaya论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Childrens Hosp Philadelphia, Sch Med, Dept Metab & Genet, Philadelphia, PA 19104 USA C Besta Neurol Inst Fdn, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr, Study Childrens Mitochondrial Disorders, I-20126 Milan, ItalyDi Mauro, Salvatore论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, Med Ctr, New York, NY USA C Besta Neurol Inst Fdn, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr, Study Childrens Mitochondrial Disorders, I-20126 Milan, ItalyZeviani, Massimo论文数: 0 引用数: 0 h-index: 0机构: C Besta Neurol Inst Fdn, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr, Study Childrens Mitochondrial Disorders, I-20126 Milan, Italy C Besta Neurol Inst Fdn, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr, Study Childrens Mitochondrial Disorders, I-20126 Milan, Italy
- [5] Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case seriesBMC MEDICAL GENETICS, 2019, 20 (01)Mahjoub, Ghazale论文数: 0 引用数: 0 h-index: 0机构: Shiraz Univ Med Sci, Persian BayanGene Res & Training Ctr, Shiraz, Iran Shiraz Univ Med Sci, Persian BayanGene Res & Training Ctr, Shiraz, IranHabibzadeh, Parham论文数: 0 引用数: 0 h-index: 0机构: Shiraz Univ Med Sci, Persian BayanGene Res & Training Ctr, Shiraz, Iran Shiraz Univ Med Sci, Student Res Comm, Shiraz, Iran Shiraz Univ Med Sci, Persian BayanGene Res & Training Ctr, Shiraz, Iran论文数: 引用数: h-index:机构:Mirzaei, Malihe论文数: 0 引用数: 0 h-index: 0机构: Shiraz Univ Med Sci, Persian BayanGene Res & Training Ctr, Shiraz, Iran Shiraz Univ Med Sci, Persian BayanGene Res & Training Ctr, Shiraz, IranKavosi, Arghavan论文数: 0 引用数: 0 h-index: 0机构: Shiraz Univ Med Sci, Persian BayanGene Res & Training Ctr, Shiraz, Iran Shiraz Univ Med Sci, Persian BayanGene Res & Training Ctr, Shiraz, IranJamali, Laila论文数: 0 引用数: 0 h-index: 0机构: Shiraz Univ Med Sci, Persian BayanGene Res & Training Ctr, Shiraz, Iran Shiraz Univ Med Sci, Persian BayanGene Res & Training Ctr, Shiraz, IranJavanmardi, Haniyeh论文数: 0 引用数: 0 h-index: 0机构: Shiraz Univ Med Sci, Student Res Comm, Shiraz, Iran Shiraz Univ Med Sci, Persian BayanGene Res & Training Ctr, Shiraz, IranKatibeh, Pegah论文数: 0 引用数: 0 h-index: 0机构: Shiraz Univ Med Sci, Dept Pediat, Shiraz, Iran Shiraz Univ Med Sci, Persian BayanGene Res & Training Ctr, Shiraz, IranFaghihi, Mohammad Ali论文数: 0 引用数: 0 h-index: 0机构: Shiraz Univ Med Sci, Persian BayanGene Res & Training Ctr, Shiraz, Iran Univ Miami, Miller Sch Med, Ctr Therapeut Innovat, Dept Psychiat & Behav Sci, Miami, FL 33136 USA Shiraz Univ Med Sci, Persian BayanGene Res & Training Ctr, Shiraz, IranDastgheib, Seyed Alireza论文数: 0 引用数: 0 h-index: 0机构: Shiraz Univ Med Sci, Sch Med, Dept Med Genet, Shiraz, Iran Shiraz Univ Med Sci, Persian BayanGene Res & Training Ctr, Shiraz, Iran
- [6] MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndromeMOLECULAR GENETICS AND METABOLISM REPORTS, 2016, 8 : 74 - 76Kim, Joonil论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Childrens Hosp, Asan Med Ctr, Coll Med,Dept Pediat, 88,Olymp Ro 43 Gil, Seoul 05505, South Korea Univ Ulsan, Childrens Hosp, Asan Med Ctr, Coll Med,Dept Pediat, 88,Olymp Ro 43 Gil, Seoul 05505, South Korea论文数: 引用数: h-index:机构:Kim, Yoonmyung论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Childrens Hosp, Asan Med Ctr, Coll Med,Dept Pediat, 88,Olymp Ro 43 Gil, Seoul 05505, South Korea Univ Ulsan, Childrens Hosp, Asan Med Ctr, Coll Med,Dept Pediat, 88,Olymp Ro 43 Gil, Seoul 05505, South KoreaKim, Jae-Min论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Childrens Hosp, Asan Med Ctr, Coll Med,Ctr Med Genet, Seoul, South Korea Univ Ulsan, Childrens Hosp, Asan Med Ctr, Coll Med,Dept Pediat, 88,Olymp Ro 43 Gil, Seoul 05505, South Korea论文数: 引用数: h-index:机构:Murayama, Kei论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Dept Metab, Chiba, Japan Univ Ulsan, Childrens Hosp, Asan Med Ctr, Coll Med,Dept Pediat, 88,Olymp Ro 43 Gil, Seoul 05505, South KoreaKim, Gu-Hwan论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Childrens Hosp, Asan Med Ctr, Coll Med,Ctr Med Genet, Seoul, South Korea Univ Ulsan, Childrens Hosp, Asan Med Ctr, Coll Med,Dept Pediat, 88,Olymp Ro 43 Gil, Seoul 05505, South KoreaChoi, In Hee论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Childrens Hosp, Asan Med Ctr, Coll Med,Ctr Med Genet, Seoul, South Korea Univ Ulsan, Childrens Hosp, Asan Med Ctr, Coll Med,Dept Pediat, 88,Olymp Ro 43 Gil, Seoul 05505, South KoreaKim, Kyung Mo论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Childrens Hosp, Asan Med Ctr, Coll Med,Dept Pediat, 88,Olymp Ro 43 Gil, Seoul 05505, South Korea Univ Ulsan, Childrens Hosp, Asan Med Ctr, Coll Med,Dept Pediat, 88,Olymp Ro 43 Gil, Seoul 05505, South KoreaYoo, Han-Wook论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Childrens Hosp, Asan Med Ctr, Coll Med,Dept Pediat, 88,Olymp Ro 43 Gil, Seoul 05505, South Korea Univ Ulsan, Childrens Hosp, Asan Med Ctr, Coll Med,Ctr Med Genet, Seoul, South Korea Univ Ulsan, Childrens Hosp, Asan Med Ctr, Coll Med,Dept Pediat, 88,Olymp Ro 43 Gil, Seoul 05505, South Korea
- [7] MPV17-related Hepatocerebral Mitochondrial DNA Depletion SyndromeKOREAN JOURNAL OF GASTROENTEROLOGY, 2021, 77 (05): : 248 - 252Hong, Ki Teak论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Pediat, Coll Med, Seoul, South Korea Seoul Natl Univ, Dept Pediat, Coll Med, Seoul, South KoreaLim, Byung Chan论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Pediat, Coll Med, Seoul, South Korea Seoul Natl Univ, Dept Pediat, Coll Med, Seoul, South KoreaMoon, Jin Soo论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Pediat, Coll Med, Seoul, South Korea Seoul Natl Univ, Dept Pediat, Coll Med, Seoul, South KoreaKo, Jae Sung论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Pediat, Coll Med, Seoul, South Korea Seoul Natl Univ, Dept Pediat, Coll Med, Seoul, South Korea
- [8] New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndromeARCHIVES OF NEUROLOGY, 2005, 62 (05) : 745 - 747Mancuso, M论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USAFerraris, S论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USAPancrudo, J论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USAFeigenbaum, A论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USARaiman, J论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USAChristodoulou, J论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USAThorburn, DR论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USADiMauro, S论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA
- [9] Novel mutation in DGUOK in Hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuriaAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 135A (03) : 289 - 291Tadiboyina, VT论文数: 0 引用数: 0 h-index: 0机构: John P Robarts Res Inst, Cardiovasc Genet Lab, London, ON N6A 5K8, CanadaRupar, A论文数: 0 引用数: 0 h-index: 0机构: John P Robarts Res Inst, Cardiovasc Genet Lab, London, ON N6A 5K8, CanadaAtkison, P论文数: 0 引用数: 0 h-index: 0机构: John P Robarts Res Inst, Cardiovasc Genet Lab, London, ON N6A 5K8, CanadaFeigenbaum, A论文数: 0 引用数: 0 h-index: 0机构: John P Robarts Res Inst, Cardiovasc Genet Lab, London, ON N6A 5K8, CanadaKronick, J论文数: 0 引用数: 0 h-index: 0机构: John P Robarts Res Inst, Cardiovasc Genet Lab, London, ON N6A 5K8, CanadaWang, J论文数: 0 引用数: 0 h-index: 0机构: John P Robarts Res Inst, Cardiovasc Genet Lab, London, ON N6A 5K8, CanadaHegele, RA论文数: 0 引用数: 0 h-index: 0机构: John P Robarts Res Inst, Cardiovasc Genet Lab, London, ON N6A 5K8, Canada
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