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1دورية أكاديمية
المؤلفون: Bisschoff, Michelle, Smuts, Izelle, Dercksen, Marli, Schoonen, Maryke, Vorster, Barend C., Van der Watt, George, Spencer, Careni, Naidu, Kireshnee, Henning, Franclo, Meldau, Surita, McFarland, Robert, Taylor, Robert W., Patel, Krutik, Fassad, Mahmoud R., Vandrovcova, Jana, Wanders, Ronald J.A., Van der Westhuizen, Francois H.
مصطلحات موضوعية: Multiple acyl-CoA dehydrogenase deficiency (MADD), Electron transfer flavoprotein-ubiquinone oxidoreductase gene (ETFDH), South Africa (SA), Glutaric aciduria type II, Riboflavin, International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD)
وصف الملف: application/pdf
العلاقة: Bisschoff, M., Smuts, I., Dercksen, M. et al. Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study. Orphanet Journal of Rare Diseases 19, 15 (2024). https://doi.org/10.1186/s13023-023-03014-8Test.; 1750-1172 (online); http://hdl.handle.net/2263/94131Test
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2دورية أكاديمية
المصدر: AACE Clinical Case Reports, Vol 9, Iss 1, Pp 13-16 (2023)
مصطلحات موضوعية: multiple acyl-coenzyme A dehydrogenase deficiency, glutaric aciduria type II, lipid storage myopathy, inborn errors of metabolism, muscle weakness, electron transfer flavoprotein dehydrogenase, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2376060522000827Test; https://doaj.org/toc/2376-0605Test
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3دورية أكاديمية
مصطلحات موضوعية: conformational change, electron density, electron transfer, electron transfer flavoprotein, electron bifurcation, flavoprotein, FAD, hydrogen bond, QM/MM, redox tuning, ddc:539
وصف الملف: 15 Seiten; application/pdf
العلاقة: https://refubium.fu-berlin.de/handle/fub188/42716Test; http://dx.doi.org/10.17169/refubium-42435Test; 96197
الإتاحة: https://doi.org/10.17169/refubium-42435Test
https://doi.org/10.1016/j.jbc.2023.104762Test
https://refubium.fu-berlin.de/handle/fub188/42716Test -
4دورية أكاديمية
المؤلفون: C Murgia, A Dehlia, Mark Guthridge
مصطلحات موضوعية: Zoology, Biomedical and clinical sciences, Nutrition and dietetics, Sports science and exercise, ACAD9 MUTATIONS, ACYL-COA DEHYDROGENASE, BLOOD-PRESSURE, ELECTRON-TRANSFER FLAVOPROTEIN, ETFDH MUTATIONS, FUNCTIONAL-CHARACTERIZATION, HUMAN FAD SYNTHASE, Life Sciences & Biomedicine, Metabolism, METHYLENETETRAHYDROFOLATE REDUCTASE, Micronutrients, Nutrigenomics, Nutrition & Dietetics, Personalised nutrition, RISK-FACTOR, Science & Technology, VAN LAERE SYNDROME, Vitamin
العلاقة: http://hdl.handle.net/10779/DRO/DU:24848226.v2Test; https://figshare.com/articles/journal_contribution/New_insights_into_the_nutritional_genomics_of_adult-onset_riboflavin-responsive_diseases/24848226Test
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5دورية أكاديمية
المؤلفون: Fuying Chen, Cheng Ni, Xiaoxiao Wang, Ruhong Cheng, Chaolan Pan, Yumeng Wang, Jianying Liang, Jia Zhang, Jinke Cheng, Y Eugene Chin, Yi Zhou, Zhen Wang, Yiran Guo, She Chen, Stephanie Htun, Erin F Mathes, Alejandra G de Alba Campomanes, Anne M Slavotinek, Si Zhang, Ming Li, Zhirong Yao
المصدر: EMBO Molecular Medicine, Vol 14, Iss 5, Pp n/a-n/a (2022)
مصطلحات موضوعية: CAOP, electron transfer flavoprotein, MBTPS1, mitochondrial respiratory chain reaction, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Orna Staretz-Chacham, Shirly Amar, Shlomo Almashanu, Ben Pode-Shakked, Ann Saada, Ohad Wormser, Eli Hershkovitz
المصدر: Genes; Volume 12; Issue 8; Pages: 1140
مصطلحات موضوعية: multiple acyl-CoA dehydrogenase deficiency (MADD), electron-transfer flavoprotein (ETF), electron-transfer flavoprotein dehydrogenase (ETFDH), genotype, phenotype
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12081140Test
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7دورية أكاديمية
المؤلفون: Amanat Ali, Fatmah Saeed Ali Almesmari, Nahid Al Dhahouri, Arwa Mohammad Saleh Ali, Mohammed Ahmed Ali Mohamed Ahmed Aldhanhani, Ranjit Vijayan, Amal Al Tenaiji, Aisha Al Shamsi, Jozef Hertecant, Fatma Al Jasmi
المصدر: Genes; Volume 12; Issue 9; Pages: 1334
مصطلحات موضوعية: electron transfer flavoprotein dehydrogenase, glutaric aciduria type II, metabolic acidosis, recurrent vomiting
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes12091334Test
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8دورية أكاديمية
المؤلفون: Amanat Ali, Nahid Al Dhahouri, Fatmah Saeed Ali Almesmari, Waseem Mahmoud Fathalla, Fatma Al Jasmi
المصدر: Genes; Volume 12; Issue 5; Pages: 703
مصطلحات موضوعية: electron transfer flavoprotein dehydrogenase, GA-II, 3-phosphoglycerate dehydrogenase, serine deficiency, whole exome sequencing, Syria
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12050703Test
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9دورية أكاديمية
المؤلفون: Suphannee Chokchaiwong, Yung-Ting Kuo, Sung-Po Hsu, Yi-Ching Hsu, Shih-Hsiang Lin, Wen-Bin Zhong, Yung-Feng Lin, Shu-Huei Kao
المصدر: Cells; Volume 8; Issue 2; Pages: 106
مصطلحات موضوعية: multiple acyl-CoA dehydrogenase deficiency, electron-transfer flavoprotein dehydrogenase, electron-transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial dysfunction, lipid droplet accumulation
وصف الملف: application/pdf
العلاقة: Organelle Function; https://dx.doi.org/10.3390/cells8020106Test
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10دورية أكاديمية
المؤلفون: Braun, Hans-Peter
المصدر: Mitochondrion 53 (2020) ; Mitochondrion
مصطلحات موضوعية: Arabidopsis thaliana, ATP synthase, Electron transfer chain, Gamma-type carbonic anhydrase, NADH dehydrogenase, Oxidative phosphorylation, Photosynthesis, Plant mitochondria, Respiratory protein complexes, Respiratory supercomplexes, alternative NAD(P)H dehydrogenase, carbonate dehydratase I, carbonate dehydratase II, carbonate dehydratase III, complex V, cytochrome c, cytochrome c oxidase, electron transfer flavoprotein ubiquinone oxidoreductase, electron transferring flavoprotein, levo galactono 1,4 lactone dehydrogenase, oxidoreductase, proline dehydrogenase, proton transporting adenosine triphosphate synthase, reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinone), succinate dehydrogenase (ubiquinone), ubiquinol cytochrome c reductase, unclassified drug, mitochondrial protein, plant protein, amino acid sequence
العلاقة: ESSN:1872-8278; http://dx.doi.org/10.15488/11676Test; https://www.repo.uni-hannover.de/handle/123456789/11769Test
الإتاحة: https://doi.org/10.15488/11676Test
https://doi.org/10.1016/j.mito.2020.04.007Test
https://www.repo.uni-hannover.de/handle/123456789/11769Test