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- [1] Development of AAV Gene Therapy for ECHS1 DeficiencyMOLECULAR THERAPY, 2022, 30 (04) : 129 - 129Eller, Meghan M.论文数: 0 引用数: 0 h-index: 0机构: UT SouthWestern Med Ctr, Ctr Alzheimers & Neurodegenerat Dis, Dallas, TX USA UT SouthWestern Med Ctr, Ctr Alzheimers & Neurodegenerat Dis, Dallas, TX USAGarza, Irvin论文数: 0 引用数: 0 h-index: 0机构: UT SouthWestern Med Ctr, Ctr Alzheimers & Neurodegenerat Dis, Dallas, TX USA UT SouthWestern Med Ctr, Ctr Alzheimers & Neurodegenerat Dis, Dallas, TX USAKnight, Krishanna论文数: 0 引用数: 0 h-index: 0机构: UT SouthWestern Med Ctr, Ctr Alzheimers & Neurodegenerat Dis, Dallas, TX USA UT SouthWestern Med Ctr, Ctr Alzheimers & Neurodegenerat Dis, Dallas, TX USABailey, Rachel M.论文数: 0 引用数: 0 h-index: 0机构: UT SouthWestern Med Ctr, Ctr Alzheimers & Neurodegenerat Dis, Dallas, TX USA UT SouthWestern Med Ctr, Ctr Alzheimers & Neurodegenerat Dis, Dallas, TX USA
- [2] Valine metabolites analysis in ECHS1 deficiencyMOLECULAR GENETICS AND METABOLISM REPORTS, 2021, 29Kuwajima, Mari论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Pediat, Tochigi, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanKojima, Karin论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Pediat, Tochigi, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanOsaka, Hitoshi论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Pediat, Tochigi, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanHamada, Yusuke论文数: 0 引用数: 0 h-index: 0机构: Toyonaka City Hosp, Dept Pediat, Osaka, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanJimbo, Eriko论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Pediat, Tochigi, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanWatanabe, Miyuki论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Pediat, Tochigi, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanAoki, Shiho论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Pediat, Tochigi, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanSato-Shirai, Ikuko论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Fuchu Ryoiku Ctr, Dept Pediat, Tokyo, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanIchimoto, Keiko论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Dept Metab, Chiba, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanFushimi, Takuya论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Dept Metab, Chiba, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanMurayama, Kei论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Dept Metab, Chiba, Japan Juntendo Univ, Grad Sch Med, Diagnost & Therapeut Intractable Dis Intractable, Tokyo, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanOhtake, Akira论文数: 0 引用数: 0 h-index: 0机构: Saitama Med Univ, Fac Med, Dept Pediat & Clin Genom, Saitama, Japan Saitama Med Univ Hosp, Ctr Intractable Dis, Saitama, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanKohda, Masakazu论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Grad Sch Med, Diagnost & Therapeut Intractable Dis Intractable, Tokyo, Japan Jichi Med Univ, Dept Pediat, Tochigi, Japan论文数: 引用数: h-index:机构:Yatsuka, Yukiko论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Grad Sch Med, Diagnost & Therapeut Intractable Dis Intractable, Tokyo, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanUchino, Shumpei论文数: 0 引用数: 0 h-index: 0机构: Teikyo Univ, Sch Med, Dept Pediat, Tokyo, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanMimaki, Masakazu论文数: 0 引用数: 0 h-index: 0机构: Teikyo Univ, Sch Med, Dept Pediat, Tokyo, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanMiyake, Noriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Natl Ctr Global Hlth & Med, Res Inst, Dept Human Genet, Tokyo, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanMatsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanOkazaki, Yasushi论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Grad Sch Med, Diagnost & Therapeut Intractable Dis Intractable, Tokyo, Japan RIKEN, Ctr Integrat Med Sci, Lab Comprehens Genom Anal, Kanagawa, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanOgata, Tomomi论文数: 0 引用数: 0 h-index: 0机构: Gunma Univ, Grad Sch Med, Dept Pediat, Maebashi, Gumma, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanYamagata, Takanori论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Pediat, Tochigi, Japan Jichi Med Univ, Dept Pediat, Tochigi, JapanMuramatsu, Kazuhiro论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Pediat, Tochigi, Japan Jichi Med Univ, Dept Pediat, Tochigi, Japan
- [3] ECHS1 deficiency and its biochemical and clinical phenotypeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (10) : 2908 - 2919Ozlu, Can论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, Dallas, TX 75235 USA Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, Dallas, TX 75235 USAChelliah, Priya论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern, Sch Med, Dallas, TX USA Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, Dallas, TX 75235 USADahshi, Hamza论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, Dallas, TX 75235 USA Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, Dallas, TX 75235 USAHorton, Daniel论文数: 0 引用数: 0 h-index: 0机构: Childrens Hlth, Dallas, TX USA Univ Texas Southwestern Med Ctr Dallas, Dept Psychiat, Dallas, TX 75235 USA Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, Dallas, TX 75235 USAEdgar, Veronica B.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, Dallas, TX 75235 USA Childrens Hlth, Dallas, TX USA Univ Texas Southwestern Med Ctr Dallas, Dept Psychiat, Dallas, TX 75235 USA Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, Dallas, TX 75235 USAMessahel, Souad论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Perot Fdn Neurosci Translat Res Ctr, Peter ODonnell Jr Brain Inst, Dallas, TX USA Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, Dallas, TX 75235 USAKayani, Saima论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, Dallas, TX 75235 USA Childrens Hlth, Dallas, TX USA Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, Dallas, TX 75235 USA
- [4] ECHS1 deficiency as a cause of severe neonatal lactic acidosisMOLECULAR GENETICS AND METABOLISM, 2015, 114 (03) : 334 - 334Ganetzky, Rebecca D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Sect Biochem Genet, Philadelphia, PA USA Childrens Hosp Philadelphia, Sect Biochem Genet, Philadelphia, PA USAFicicioglu, Can论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Sect Biochem Genet, Philadelphia, PA USA Childrens Hosp Philadelphia, Sect Biochem Genet, Philadelphia, PA USA
- [5] Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2015, 2 (05): : 492 - 509Haack, Tobias B.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyJackson, Christopher B.论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Inst Clin Chem, CH-3010 Bern, Switzerland Univ Bern, Univ Childrens Hosp, CH-3010 Bern, Switzerland Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyMurayama, Kei论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Dept Metab, Chiba 2660007, Japan Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyKremer, Laura S.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanySchaller, Andre论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Div Human Genet, Dept Pediat, CH-3010 Bern, Switzerland Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyKotzaeridou, Urania论文数: 0 引用数: 0 h-index: 0机构: Univ Heidelberg Hosp, Dept Gen Pediat, Div Inherited Metab Dis, D-69120 Heidelberg, Germany Univ Heidelberg Hosp, Dept Gen Pediat, Div Neuropediat, D-69120 Heidelberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germanyde Vries, Maaike C.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6525 GA Nijmegen, Netherlands Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanySchottmann, Gudrun论文数: 0 引用数: 0 h-index: 0机构: Charite, Dept Neuropediat, D-13353 Berlin, Germany Charite, NeuroCure Clin Res Ctr, D-13353 Berlin, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanySantra, Saikat论文数: 0 引用数: 0 h-index: 0机构: Birmingham Childrens Hosp, Dept Pediat, Birmingham B4 6NH, W Midlands, England Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyBuechner, Boriana论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Friedrich Baur Inst, Dept Neurol, D-80336 Munich, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyWieland, Thomas论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyGraf, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyFreisinger, Peter论文数: 0 引用数: 0 h-index: 0机构: Klinikum Reutlingen, Dept Pediat, D-72764 Reutlingen, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyEggimann, Sandra论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Inst Clin Chem, CH-3010 Bern, Switzerland Univ Bern, Univ Childrens Hosp, CH-3010 Bern, Switzerland Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyOhtake, Akira论文数: 0 引用数: 0 h-index: 0机构: Saitama Med Univ, Dept Pediat, Fac Med, Saitama 3500495, Japan Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyOkazaki, Yasushi论文数: 0 引用数: 0 h-index: 0机构: Saitama Med Univ, Div Translat Res, Res Ctr Genom Med, Saitama 3501241, Japan Saitama Med Univ, Res Ctr Genom Med, Div Funct Genom & Syst Med, Saitama 3501241, Japan Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyKohda, Masakazu论文数: 0 引用数: 0 h-index: 0机构: Saitama Med Univ, Div Translat Res, Res Ctr Genom Med, Saitama 3501241, Japan Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyKishita, Yoshihito论文数: 0 引用数: 0 h-index: 0机构: Saitama Med Univ, Res Ctr Genom Med, Div Funct Genom & Syst Med, Saitama 3501241, Japan Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyTokuzawa, Yoshimi论文数: 0 引用数: 0 h-index: 0机构: Saitama Med Univ, Res Ctr Genom Med, Div Funct Genom & Syst Med, Saitama 3501241, Japan Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanySauer, Sascha论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, Otto Warburg Lab, D-14195 Berlin, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyMemari, Yasin论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyKolb-Kokocinski, Anja论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyDurbin, Richard论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyHasselmann, Oswald论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Switzerland St Gallen, Dept Neuropediat, CH-9006 St Gallen, Switzerland Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyCremer, Kirsten论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyAlbrecht, Beate论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyWieczorek, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyEngels, Hartmut论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyHahn, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Inst Clin Chem, CH-3010 Bern, Switzerland Univ Bern, Univ Childrens Hosp, CH-3010 Bern, Switzerland Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyZink, Alexander M.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyAlston, Charlotte L.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Sch Med, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyTaylor, Robert W.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Sch Med, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyRodenburg, Richard J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6525 GA Nijmegen, Netherlands Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyTrollmann, Regina论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Dept Pediat, D-91054 Erlangen, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanySperl, Wolfgang论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ Salzburg, Dept Pediat, A-5020 Salzburg, Austria Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyHoffmann, Georg F.论文数: 0 引用数: 0 h-index: 0机构: Univ Heidelberg Hosp, Dept Gen Pediat, Div Inherited Metab Dis, D-69120 Heidelberg, Germany Univ Heidelberg Hosp, Dept Gen Pediat, Div Neuropediat, D-69120 Heidelberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyMayr, Johannes A.论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ Salzburg, Dept Pediat, A-5020 Salzburg, Austria Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyMeitinger, Thomas论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Munich Cluster Syst Neurol SyNergy, D-80336 Munich, Germany DZNE German Ctr Neurodegenerat Dis, D-80336 Munich, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyBolognini, Ramona论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Div Human Genet, Dept Pediat, CH-3010 Bern, Switzerland Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanySchuelke, Markus论文数: 0 引用数: 0 h-index: 0机构: Charite, Dept Neuropediat, D-13353 Berlin, Germany Charite, NeuroCure Clin Res Ctr, D-13353 Berlin, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyNuoffer, Jean-Marc论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Inst Clin Chem, CH-3010 Bern, Switzerland Univ Bern, Univ Childrens Hosp, CH-3010 Bern, Switzerland Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany论文数: 引用数: h-index:机构:Prokisch, Holger论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyKlopstock, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Friedrich Baur Inst, Dept Neurol, D-80336 Munich, Germany Munich Cluster Syst Neurol SyNergy, D-80336 Munich, Germany DZNE German Ctr Neurodegenerat Dis, D-80336 Munich, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany
- [6] Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiencyFEBS LETTERS, 2020, 594 (04) : 590 - 610Burgin, Harrison James论文数: 0 引用数: 0 h-index: 0机构: Deakin Univ, Fac Sci Engn & Built Environm, Sch Life & Environm Sci, Geelong, Vic 3216, Australia Deakin Univ, Fac Sci Engn & Built Environm, Sch Life & Environm Sci, Geelong, Vic 3216, AustraliaMcKenzie, Matthew论文数: 0 引用数: 0 h-index: 0机构: Deakin Univ, Fac Sci Engn & Built Environm, Sch Life & Environm Sci, Geelong, Vic 3216, Australia Hudson Inst Med Res, Ctr Innate Immun & Infect Dis, Melbourne, Vic, Australia Monash Univ, Dept Mol & Translat Sci, Melbourne, Vic, Australia Deakin Univ, Fac Sci Engn & Built Environm, Sch Life & Environm Sci, Geelong, Vic 3216, Australia
- [7] IDENTIFICATION OF ECHS1 DEFICIENCY USING PLASMA ACYLCARNITINE ANALYSISMOLECULAR GENETICS AND METABOLISM, 2023, 138 (03) : 41 - 42D'Annibale, Olivia论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pathol & Lab Med, Boulder, CO USA Univ Colorado, Dept Pathol & Lab Med, Boulder, CO USAPhinney, Whitney论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pathol & Lab Med, Boulder, CO USA Univ Colorado, Dept Pathol & Lab Med, Boulder, CO USAKocchar, Aaina论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Sect Clin Genet & Metab, Dept Pediat, Boulder, CO USA Univ Colorado, Dept Pathol & Lab Med, Boulder, CO USAWood, Tim C.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Sect Clin Genet & Metab, Dept Pediat, Boulder, CO USA Univ Colorado, Dept Pathol & Lab Med, Boulder, CO USA
- [8] Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosisMetabolic Brain Disease, 2016, 31 : 1189 - 1192Pratibha Nair论文数: 0 引用数: 0 h-index: 0机构: Centre for Arab Genomic Studies,Pediatric Department, Latifa HospitalAbdul Rezzak Hamzeh论文数: 0 引用数: 0 h-index: 0机构: Centre for Arab Genomic Studies,Pediatric Department, Latifa HospitalMadiha Mohamed论文数: 0 引用数: 0 h-index: 0机构: Centre for Arab Genomic Studies,Pediatric Department, Latifa HospitalEthar Mustafa Malik论文数: 0 引用数: 0 h-index: 0机构: Centre for Arab Genomic Studies,Pediatric Department, Latifa HospitalMahmoud Taleb Al-Ali论文数: 0 引用数: 0 h-index: 0机构: Centre for Arab Genomic Studies,Pediatric Department, Latifa HospitalFatma Bastaki论文数: 0 引用数: 0 h-index: 0机构: Centre for Arab Genomic Studies,Pediatric Department, Latifa Hospital
- [9] Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosisMETABOLIC BRAIN DISEASE, 2016, 31 (05) : 1189 - 1192Nair, Pratibha论文数: 0 引用数: 0 h-index: 0机构: Ctr Arab Genom Studies, POB 22252, Dubai, U Arab Emirates Ctr Arab Genom Studies, POB 22252, Dubai, U Arab EmiratesHamzeh, Abdul Rezzak论文数: 0 引用数: 0 h-index: 0机构: Ctr Arab Genom Studies, POB 22252, Dubai, U Arab Emirates Ctr Arab Genom Studies, POB 22252, Dubai, U Arab EmiratesMohamed, Madiha论文数: 0 引用数: 0 h-index: 0机构: Dubai Hlth Author, Latifa Hosp, Dept Pediat, Dubai, U Arab Emirates Ctr Arab Genom Studies, POB 22252, Dubai, U Arab EmiratesMalik, Ethar Mustafa论文数: 0 引用数: 0 h-index: 0机构: Dubai Hlth Author, Latifa Hosp, Dept Pediat, Dubai, U Arab Emirates Ctr Arab Genom Studies, POB 22252, Dubai, U Arab EmiratesAl-Ali, Mahmoud Taleb论文数: 0 引用数: 0 h-index: 0机构: Ctr Arab Genom Studies, POB 22252, Dubai, U Arab Emirates Ctr Arab Genom Studies, POB 22252, Dubai, U Arab EmiratesBastaki, Fatma论文数: 0 引用数: 0 h-index: 0机构: Dubai Hlth Author, Latifa Hosp, Dept Pediat, Dubai, U Arab Emirates Ctr Arab Genom Studies, POB 22252, Dubai, U Arab Emirates
- [10] ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh SyndromeHUMAN MUTATION, 2015, 36 (02) : 232 - 239Sakai, Chika论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Tokyo 1878502, Japan Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Tokyo 1878502, Japan论文数: 引用数: h-index:机构:Sasaki, Masayuki论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Dept Child Neurol, Tokyo, Japan Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Tokyo 1878502, JapanMiyamoto, Yusaku论文数: 0 引用数: 0 h-index: 0机构: St Marianna Univ, Sch Med, Dept Pediat, Kawasaki, Kanagawa, Japan Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Tokyo 1878502, JapanMatsushima, Yuichi论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Tokyo 1878502, Japan Kyushu Univ, Grad Sch Med Sci, Dept Clin Chem & Lab Med, Fukuoka 812, Japan Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Tokyo 1878502, JapanGoto, Yu-ichi论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Tokyo 1878502, Japan Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Tokyo 1878502, Japan