Zobrazeno 1 - 10
of 236
pro vyhledávání: '"Thiamin Pyrophosphokinase"'
Autor:
Ranjan Kumar R; Special Centre for Molecular Medicine, Jawaharlal Nehru University, New Delhi, India.; Department of Bioscience and Biotechnology, Banasthali Vidyapith University, Banasthali, Rajasthan, India., Jain R; Special Centre for Molecular Medicine, Jawaharlal Nehru University, New Delhi, India., Akhtar S; Special Centre for Molecular Medicine, Jawaharlal Nehru University, New Delhi, India., Parveen N; Special Centre for Molecular Medicine, Jawaharlal Nehru University, New Delhi, India., Ghosh A; Department of Computational Biology and Biotechnology, Mahapurusha Srimanta Sankaradeva Viswavidyalaya, Guwahati, Assam, India., Sharma V; Department of Bioscience and Biotechnology, Banasthali Vidyapith University, Banasthali, Rajasthan, India., Singh S; Special Centre for Molecular Medicine, Jawaharlal Nehru University, New Delhi, India.
Publikováno v:
Journal of biomolecular structure & dynamics [J Biomol Struct Dyn] 2024 Jul; Vol. 42 (11), pp. 5669-5685. Date of Electronic Publication: 2023 Jun 23.
Autor:
Mascarenhas S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal., Yeole M; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal., Rao LP; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal., do Rosario MC; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal., Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal., Nair KV; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal., Sharma S; Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi., Barala PK; Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi., Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi., Pal S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi., Siddiqui S; Department of Neuroimaging and Interventional Radiology, STAR Institute of Neurosciences, STAR Hospitals, Hyderabad, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal.
Publikováno v:
Clinical dysmorphology [Clin Dysmorphol] 2024 Oct 01; Vol. 33 (4), pp. 160-166. Date of Electronic Publication: 2024 Jul 16.
Autor:
Sambon M; Laboratory of Neurophysiology, GIGA-Neurosciences, University of Liege, Liege, Belgium., Pavlova O; Palladin Institute of Biochemistry, National Academy of Sciences of Ukraine, Kyiv, Ukraine., Alhama-Riba J; Laboratory of Neurophysiology, GIGA-Neurosciences, University of Liege, Liege, Belgium; University of Girona, Faculty of Sciences, Spain., Wins P; Laboratory of Neurophysiology, GIGA-Neurosciences, University of Liege, Liege, Belgium., Brans A; Protein Factory, Center for Protein Engineering, University of Liege, Liege, Belgium., Bettendorff L; Laboratory of Neurophysiology, GIGA-Neurosciences, University of Liege, Liege, Belgium. Electronic address: L.Bettendorff@uliege.be.
Publikováno v:
Biochimica et biophysica acta. General subjects [Biochim Biophys Acta Gen Subj] 2022 Mar; Vol. 1866 (3), pp. 130071. Date of Electronic Publication: 2021 Dec 20.
Autor:
Nyhan WL; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA. Electronic address: wnyhan@ucsd.edu., McGowan K; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA., Barshop BA; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA.
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2019 Dec; Vol. 499, pp. 13-15. Date of Electronic Publication: 2019 Aug 09.
Autor:
Huang W; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China., Qin J; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China., Liu D; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China., Wang Y; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China., Shen X; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China., Yang N; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China., Zhou H; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China., Cai XT; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China., Wang ZL; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China., Yu D; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China., Luo R; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China., Sun Q; Department of Pathology, West China Hospital, Sichuan University, Chengdu, 610041, China., Xie YM; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China. may.xym@163.com., Jia D; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China. Jiada@scu.edu.cn.
Publikováno v:
Molecular genetics and genomics : MGG [Mol Genet Genomics] 2019 Apr; Vol. 294 (2), pp. 409-416. Date of Electronic Publication: 2018 Nov 27.
Autor:
Nosaka K; 12nd Department of Biochemistry, School of Pharmacy and Pharmaceutical Sciences, Mukogawa Women's University, Nishinomiya, Japan., Uchiyama R; 12nd Department of Biochemistry, School of Pharmacy and Pharmaceutical Sciences, Mukogawa Women's University, Nishinomiya, Japan., Tadano K; 12nd Department of Biochemistry, School of Pharmacy and Pharmaceutical Sciences, Mukogawa Women's University, Nishinomiya, Japan., Endo Y; 12nd Department of Biochemistry, School of Pharmacy and Pharmaceutical Sciences, Mukogawa Women's University, Nishinomiya, Japan., Hayashi M; 12nd Department of Biochemistry, School of Pharmacy and Pharmaceutical Sciences, Mukogawa Women's University, Nishinomiya, Japan., Konno H; 2Department of Biochemical Engineering, Graduate School of Science and Engineering, Yamagata University, Yonezawa, Japan., Mimuro H; 3Department of Infection Microbiology, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan.; 4Division of Bacteriology, International Research Center for Infectious Diseases, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
Publikováno v:
Microbiology (Reading, England) [Microbiology (Reading)] 2019 Feb; Vol. 165 (2), pp. 224-232. Date of Electronic Publication: 2019 Jan 08.
Autor:
Li X; Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, 330006, China., Huang Z; Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, 330006, China., Chen Y; Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, 330006, China., Sun X; Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, 330006, China., Yi Z; Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, 330006, China., Xie J; Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, 330006, China., Yu X; Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, 330006, China., Chen H; Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, 330006, China. chen19831102@sina.com., Zhong J; Department of Neurology, Jiangxi Provincial Children's Hospital, Nanchang, 330006, China. zhongjm@163.com.
Publikováno v:
BMC neurology [BMC Neurol] 2022 Sep 29; Vol. 22 (1), pp. 373. Date of Electronic Publication: 2022 Sep 29.
Autor:
Rüsch CT; Division of Pediatric Neurology and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland., Wortmann SB; Institute of Human Genetics, Technische Universität München, München, Germany.; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.; Paracelcus Medical University (PMU), University Children's Hospital, Salzburg, Austria., Kovacs-Nagy R; Institute of Human Genetics, Technische Universität München, München, Germany.; Department of Molecular Biology, Institute of Biochemistry and Molecular Biology, Semmelweis University, Budapest, Hungary., Grehten P; Department of Diagnostic Imaging and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland., Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland., Latal B; Division of Child Department and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland., Stettner GM; Division of Pediatric Neurology and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland.
Publikováno v:
Neuropediatrics [Neuropediatrics] 2021 Apr; Vol. 52 (2), pp. 126-132. Date of Electronic Publication: 2020 Nov 23.
Autor:
Banka S; Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK. Electronic address: Siddharth.Banka@manchester.ac.uk., de Goede C; Department of Paediatric Neurology, Royal Preston Hospital, Preston, UK., Yue WW; Structural Genomics Consortium, Old Road Campus Research Building, University of Oxford, Oxford, UK., Morris AA; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., von Bremen B; Department of Paediatrics, Royal Blackburn Hospital, Blackburn, UK., Chandler KE; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Feichtinger RG; Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria., Hart C; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Khan N; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Lunzer V; Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria., Mataković L; Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria., Marquardt T; Department of General Paediatrics, University Children's Hospital Münster, Germany., Makowski C; Department of Paediatrics, Technische Universität München, Munich, Germany., Prokisch H; Institute of Human Genetics, Helmholtz Center Munich, German Research Center for Environmental Health, Neuherberg, Germany., Debus O; Clemenshospital, Children's Hospital, Münster, Germany., Nosaka K; Department of Chemistry, Hyogo College of Medicine, Nishinomiya, Japan., Sonwalkar H; Department of Radiology, Royal Preston Hospital, Preston, UK., Zimmermann FA; Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria., Sperl W; Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria., Mayr JA; Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2014 Dec; Vol. 113 (4), pp. 301-6. Date of Electronic Publication: 2014 Oct 05.
Autor:
Wang J; Department of Pediatrics, Provincial Clinical College, Fujian Medical University, Fuzhou, Fujian 350001, China. man1971812@163.com., Chen X, Mei A
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Feb 10; Vol. 38 (2), pp. 141-144.