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1دورية أكاديمية
المؤلفون: You M; UNC Nutrition Research Institute, Kannapolis, North Carolina, USA., Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia., Fogle HM; UNC Nutrition Research Institute, Kannapolis, North Carolina, USA.; Department of Nutrition, University of North Carolina, Chapel Hill, North Carolina, USA., Rushing BR; UNC Nutrition Research Institute, Kannapolis, North Carolina, USA.; Department of Nutrition, University of North Carolina, Chapel Hill, North Carolina, USA., AlMalki RH; Metabolomics Section, Department of Clinical Genomics, Center for Genome Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia., Jaafar A; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia., Hashem M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia., Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia., Abdel Rahman AM; Metabolomics Section, Department of Clinical Genomics, Center for Genome Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia.; Department of Biochemistry and Molecular Medicine, College of Medicine, Al Faisal University, Riyadh, Saudi Arabia., Krupenko NI; UNC Nutrition Research Institute, Kannapolis, North Carolina, USA.; Department of Nutrition, University of North Carolina, Chapel Hill, North Carolina, USA., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia., Krupenko SA; UNC Nutrition Research Institute, Kannapolis, North Carolina, USA.; Department of Nutrition, University of North Carolina, Chapel Hill, North Carolina, USA.
المصدر: Clinical genetics [Clin Genet] 2024 May; Vol. 105 (5), pp. 488-498. Date of Electronic Publication: 2024 Jan 09.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural
بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
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2دورية أكاديمية
المؤلفون: Wen B; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China., Tang R; Department of Pathology, Maternal and Child Health Hospital of Liaocheng, Liaocheng, 252000, Shandong, China., Tang S; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China., Sun Y; Department of Neurology, Qilu Hospital (Qingdao), Shandong University, Qingdao, 266035, Shandong, China., Xu J; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China., Zhao D; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China., Wang T; Department of Geriatric Medicine, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China. olivelwang@sdu.edu.cn., Yan C; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China. czyan@sdu.edu.cn.; Brain Science Research Institute, Shandong University, Jinan, 250012, Shandong, China. czyan@sdu.edu.cn.
المصدر: Journal of human genetics [J Hum Genet] 2024 Apr; Vol. 69 (3-4), pp. 125-131. Date of Electronic Publication: 2024 Jan 17.
نوع المنشور: Case Reports; Journal Article
بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
مواضيع طبية MeSH: Iron-Sulfur Proteins*/genetics , Lipid Metabolism, Inborn Errors* , Multiple Acyl Coenzyme A Dehydrogenase Deficiency*/diagnosis , Multiple Acyl Coenzyme A Dehydrogenase Deficiency*/drug therapy , Multiple Acyl Coenzyme A Dehydrogenase Deficiency*/genetics , Muscular Dystrophies* , Oxidoreductases Acting on CH-NH Group Donors*/genetics , Oxidoreductases Acting on CH-NH Group Donors*/metabolism, Humans ; Acyl Coenzyme A/genetics ; Acyl Coenzyme A/metabolism ; Acyl Coenzyme A/therapeutic use ; Electron-Transferring Flavoproteins/genetics ; Electron-Transferring Flavoproteins/metabolism ; Mutation ; Riboflavin/genetics ; Riboflavin/metabolism ; Riboflavin/therapeutic use
SCR Disease Name: Myopathy with Abnormal Lipid Metabolism
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3دورية أكاديمية
المؤلفون: Ma J; Department of Neurology, First Hospital, Shanxi Medical University, No.85, Jiefang South Street, Taiyuan, China.; First Clinical Medical College, Shanxi Medical University, Taiyuan, China., Zhang H; Department of Neurology, First Hospital, Shanxi Medical University, No.85, Jiefang South Street, Taiyuan, China.; First Clinical Medical College, Shanxi Medical University, Taiyuan, China., Liang F; Department of Neurology, First Hospital, Shanxi Medical University, No.85, Jiefang South Street, Taiyuan, China.; First Clinical Medical College, Shanxi Medical University, Taiyuan, China., Li G; Department of Neurology, First Hospital, Shanxi Medical University, No.85, Jiefang South Street, Taiyuan, China.; First Clinical Medical College, Shanxi Medical University, Taiyuan, China., Pang X; Department of Neurology, First Hospital, Shanxi Medical University, No.85, Jiefang South Street, Taiyuan, China., Zhao R; Department of Neurology, First Hospital, Shanxi Medical University, No.85, Jiefang South Street, Taiyuan, China., Wang J; Department of Neurology, First Hospital, Shanxi Medical University, No.85, Jiefang South Street, Taiyuan, China., Chang X; Department of Neurology, First Hospital, Shanxi Medical University, No.85, Jiefang South Street, Taiyuan, China., Guo J; Department of Neurology, First Hospital, Shanxi Medical University, No.85, Jiefang South Street, Taiyuan, China. neuroguo@163.com., Zhang W; Department of Neurology, First Hospital, Shanxi Medical University, No.85, Jiefang South Street, Taiyuan, China. zhangvey@126.com.
المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 16; Vol. 19 (1), pp. 72. Date of Electronic Publication: 2024 Feb 16.
نوع المنشور: Meta-Analysis; Systematic Review; Journal Article
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
مواضيع طبية MeSH: Multiple Acyl Coenzyme A Dehydrogenase Deficiency*/genetics , Multiple Acyl Coenzyme A Dehydrogenase Deficiency*/diagnosis , Multiple Acyl Coenzyme A Dehydrogenase Deficiency*/metabolism , Iron-Sulfur Proteins*/genetics , Iron-Sulfur Proteins*/metabolism , Oxidoreductases Acting on CH-NH Group Donors*/genetics , Oxidoreductases Acting on CH-NH Group Donors*/metabolism, Humans ; Male ; Female ; Mutation ; Delayed Diagnosis ; Electron-Transferring Flavoproteins/genetics ; Acyl-CoA Dehydrogenase/genetics ; Acyl-CoA Dehydrogenase/metabolism
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4دورية أكاديمية
المؤلفون: Nagahashi Y; Graduate School of Sciences and Engineering, Yamagata University., Hasegawa K; Graduate School of Sciences and Engineering, Yamagata University., Takagi K; Department of Applied Chemistry, Faculty of Life Sciences, Ritsumeikan University., Yano S; Graduate School of Sciences and Engineering, Yamagata University.
المصدر: The Journal of general and applied microbiology [J Gen Appl Microbiol] 2024 Feb 02; Vol. 69 (4), pp. 206-214. Date of Electronic Publication: 2023 May 16.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Microbiology Research Foundation Country of Publication: Japan NLM ID: 0165543 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1349-8037 (Electronic) Linking ISSN: 00221260 NLM ISO Abbreviation: J Gen Appl Microbiol Subsets: MEDLINE
مواضيع طبية MeSH: Histamine* , Glucans*/metabolism , Oxidoreductases Acting on CH-NH Group Donors*, Catalytic Domain
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5تقرير
المؤلفون: Li M; The Second Hospital of Longyan, Longyan, China., Lin ZH; Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan., Chen YC; Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan., Lin P; The Second Hospital of Longyan, Longyan, China., Xie YX; The Second Hospital of Longyan, Longyan, China., Wei JC; Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.; Graduate Institute of Integrated Medicine, China Medical University, Taichung, Taiwan.; Department of Allergy, Immunology & Rheumatology, Chung Shan Medical University Hospital, Taichung, Taiwan.
المصدر: International journal of rheumatic diseases [Int J Rheum Dis] 2024 Jan; Vol. 27 (1), pp. e14906. Date of Electronic Publication: 2023 Sep 22.
نوع المنشور: Case Reports
بيانات الدورية: Publisher: Wiley on behalf of the Asia Pacific League of Associations for Rheumatology Country of Publication: England NLM ID: 101474930 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1756-185X (Electronic) Linking ISSN: 17561841 NLM ISO Abbreviation: Int J Rheum Dis Subsets: MEDLINE
مواضيع طبية MeSH: Multiple Acyl Coenzyme A Dehydrogenase Deficiency*/diagnosis , Multiple Acyl Coenzyme A Dehydrogenase Deficiency*/genetics , Iron-Sulfur Proteins*/genetics , Oxidoreductases Acting on CH-NH Group Donors*/genetics , Oxidoreductases Acting on CH-NH Group Donors*/metabolism , Osteoporosis*/drug therapy , Osteoporosis*/genetics, Male ; Humans ; Adult ; Electron-Transferring Flavoproteins/genetics ; Electron-Transferring Flavoproteins/metabolism ; Mutation ; Muscle Weakness/etiology ; Muscle Weakness/genetics
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6دورية أكاديمية
المؤلفون: Sadeh M; Edith Wolfson Medical Center, Department of Neurology, Holon, Faculty of Medicine, Tel Aviv University, Israel. Electronic address: mesadeh@tauex.tau.ac.il., Dory A; Sheba Medical Center, Department of Neurology, Tel Hashomer, Faculty of Medicine, Tel Aviv University, Israel., Lev D; Edith Wolfson Medical Center, Department of Genetics, Holon, Faculty of Medicine, Tel Aviv University, Israel., Yosovich K; Edith Wolfson Medical Center, Department of Genetics, Holon, Israel., Dabby R; Edith Wolfson Medical Center, Department of Neurology, Holon, Faculty of Medicine, Tel Aviv University, Israel.
المصدر: Journal of the neurological sciences [J Neurol Sci] 2024 Jan 15; Vol. 456, pp. 122808. Date of Electronic Publication: 2023 Nov 24.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE
مواضيع طبية MeSH: Multiple Acyl Coenzyme A Dehydrogenase Deficiency*/drug therapy , Multiple Acyl Coenzyme A Dehydrogenase Deficiency*/genetics , Iron-Sulfur Proteins*/genetics , Oxidoreductases Acting on CH-NH Group Donors*/genetics , Muscular Diseases*/drug therapy , Muscular Diseases*/genetics , Muscular Diseases*/pathology , Lipid Metabolism, Inborn Errors* , Muscular Dystrophies*, Humans ; Aged ; Muscle, Skeletal/metabolism ; Electron-Transferring Flavoproteins/genetics ; Riboflavin/therapeutic use ; Lipids
SCR Disease Name: Myopathy with Abnormal Lipid Metabolism
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7دورية أكاديمية
المؤلفون: Rilievo G; Department of Comparative Biomedicine and Food Science, University of Padua, Viale dell'Università 16, 35020 Legnaro, Italy., Magro M; Department of Comparative Biomedicine and Food Science, University of Padua, Viale dell'Università 16, 35020 Legnaro, Italy., Tonolo F; Department of Comparative Biomedicine and Food Science, University of Padua, Viale dell'Università 16, 35020 Legnaro, Italy., Cecconello A; Department of Comparative Biomedicine and Food Science, University of Padua, Viale dell'Università 16, 35020 Legnaro, Italy., Rutigliano L; Department of Molecular Medicine, Laboratory Affiliated to Istituto Pasteur Italia, Fondazione Cenci Bolognetti, Sapienza University of Rome, Viale Regina Elena 291, 00161 Rome, Italy., Cencini A; Department of Comparative Biomedicine and Food Science, University of Padua, Viale dell'Università 16, 35020 Legnaro, Italy., Molinari S; Department of Geosciences, University of Padua, Via Gradenigo 6, 35131 Padova, Italy., Di Paolo ML; Department of Molecular Medicine, University of Padua, Via G. Colombo 3, 35131 Padova, Italy., Fiorucci C; Department of Sciences, University of Roma 3, Viale Guglielmo Marconi 446, 00146 Rome, Italy., Rossi MN; Department of Sciences, University of Roma 3, Viale Guglielmo Marconi 446, 00146 Rome, Italy., Cervelli M; Department of Sciences, University of Roma 3, Viale Guglielmo Marconi 446, 00146 Rome, Italy., Vianello F; Department of Comparative Biomedicine and Food Science, University of Padua, Viale dell'Università 16, 35020 Legnaro, Italy.; International Polyamines Foundation 'ETS-ONLUS', Via del Forte Tiburtino 98, 00159 Rome, Italy.
المصدر: Biomolecules [Biomolecules] 2023 Dec 15; Vol. 13 (12). Date of Electronic Publication: 2023 Dec 15.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X (Electronic) Linking ISSN: 2218273X NLM ISO Abbreviation: Biomolecules Subsets: MEDLINE
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8دورية أكاديمية
المؤلفون: Benkő P; Institute of Plant Biology, HUN-REN Biological Research Centre, 62. Temesvári Krt., H-6726 Szeged, Hungary.; Doctoral School of Biology, University of Szeged, 52. Közép Fasor, H-6726 Szeged, Hungary.; Department of Plant Biology, University of Szeged, 52. Közép Fasor, H-6726 Szeged, Hungary., Kaszler N; Institute of Plant Biology, HUN-REN Biological Research Centre, 62. Temesvári Krt., H-6726 Szeged, Hungary.; Doctoral School of Biology, University of Szeged, 52. Közép Fasor, H-6726 Szeged, Hungary.; Department of Plant Biology, University of Szeged, 52. Közép Fasor, H-6726 Szeged, Hungary., Gémes K; Institute of Plant Biology, HUN-REN Biological Research Centre, 62. Temesvári Krt., H-6726 Szeged, Hungary.; Department of Plant Biology, University of Szeged, 52. Közép Fasor, H-6726 Szeged, Hungary., Fehér A; Institute of Plant Biology, HUN-REN Biological Research Centre, 62. Temesvári Krt., H-6726 Szeged, Hungary.; Department of Plant Biology, University of Szeged, 52. Közép Fasor, H-6726 Szeged, Hungary.
المصدر: Genes [Genes (Basel)] 2023 Oct 30; Vol. 14 (11). Date of Electronic Publication: 2023 Oct 30.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
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9دورية أكاديمية
المؤلفون: Li C; Wuxi Cancer Institute, Affiliated Hospital of Jiangnan University, Wuxi, Jiangsu, China; Laboratory of Cancer Epigenetics, Wuxi School of Medicine, Jiangnan University, Wuxi, Jiangsu, China., Teng P; Wuxi Cancer Institute, Affiliated Hospital of Jiangnan University, Wuxi, Jiangsu, China; Laboratory of Cancer Epigenetics, Wuxi School of Medicine, Jiangnan University, Wuxi, Jiangsu, China., Sun S; Wuxi Cancer Institute, Affiliated Hospital of Jiangnan University, Wuxi, Jiangsu, China; Laboratory of Cancer Epigenetics, Wuxi School of Medicine, Jiangnan University, Wuxi, Jiangsu, China., Cui K; Wuxi Cancer Institute, Affiliated Hospital of Jiangnan University, Wuxi, Jiangsu, China; Laboratory of Cancer Epigenetics, Wuxi School of Medicine, Jiangnan University, Wuxi, Jiangsu, China., Yao S; Wuxi Cancer Institute, Affiliated Hospital of Jiangnan University, Wuxi, Jiangsu, China; Laboratory of Cancer Epigenetics, Wuxi School of Medicine, Jiangnan University, Wuxi, Jiangsu, China., Fei B; Laboratory of Cancer Epigenetics, Wuxi School of Medicine, Jiangnan University, Wuxi, Jiangsu, China; Department of General Surgery, Affiliated Hospital of Jiangnan University, Wuxi, Jiangsu, China., Ling F; Chemical Genetics Laboratory, RIKEN Advanced Science Institute, Wako, Saitama, Japan., Huang Z; Wuxi Cancer Institute, Affiliated Hospital of Jiangnan University, Wuxi, Jiangsu, China; Laboratory of Cancer Epigenetics, Wuxi School of Medicine, Jiangnan University, Wuxi, Jiangsu, China. Electronic address: zhaohuihuang@jiangnan.edu.cn.
المصدر: The Journal of biological chemistry [J Biol Chem] 2023 Sep; Vol. 299 (9), pp. 105090. Date of Electronic Publication: 2023 Jul 26.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE
مواضيع طبية MeSH: Colorectal Neoplasms*/drug therapy , Colorectal Neoplasms*/genetics , Colorectal Neoplasms*/metabolism , Drug Resistance, Neoplasm*/genetics , Fluorouracil*/pharmacology , Fluorouracil*/therapeutic use , Oxidoreductases Acting on CH-NH Group Donors*/genetics , Oxidoreductases Acting on CH-NH Group Donors*/metabolism, Animals ; Mice ; Acetylation ; Cell Line, Tumor ; Folic Acid/metabolism ; Oxidation-Reduction ; Sirtuin 3/metabolism ; Gene Expression Regulation, Neoplastic/drug effects ; Up-Regulation ; Cell Proliferation/drug effects ; Apoptosis/drug effects ; Mutation
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10دورية أكاديمية
المؤلفون: Elisée E; Génomique Métabolique, Genoscope, Institut François Jacob, CEA, CNRS, Univ Evry, Université Paris-Saclay, 91057, Evry, France., Ducrot L; Génomique Métabolique, Genoscope, Institut François Jacob, CEA, CNRS, Univ Evry, Université Paris-Saclay, 91057, Evry, France., Méheust R; Génomique Métabolique, Genoscope, Institut François Jacob, CEA, CNRS, Univ Evry, Université Paris-Saclay, 91057, Evry, France., Bastard K; School of Pharmacy, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia., Fossey-Jouenne A; Génomique Métabolique, Genoscope, Institut François Jacob, CEA, CNRS, Univ Evry, Université Paris-Saclay, 91057, Evry, France., Grogan G; York Structural Biology Laboratory, Department of Chemistry, University of York, Heslington, York, YO10 5DD, UK., Pelletier E; Génomique Métabolique, Genoscope, Institut François Jacob, CEA, CNRS, Univ Evry, Université Paris-Saclay, 91057, Evry, France., Petit JL; Génomique Métabolique, Genoscope, Institut François Jacob, CEA, CNRS, Univ Evry, Université Paris-Saclay, 91057, Evry, France., Stam M; Génomique Métabolique, Genoscope, Institut François Jacob, CEA, CNRS, Univ Evry, Université Paris-Saclay, 91057, Evry, France., de Berardinis V; Génomique Métabolique, Genoscope, Institut François Jacob, CEA, CNRS, Univ Evry, Université Paris-Saclay, 91057, Evry, France., Zaparucha A; Génomique Métabolique, Genoscope, Institut François Jacob, CEA, CNRS, Univ Evry, Université Paris-Saclay, 91057, Evry, France., Vallenet D; Génomique Métabolique, Genoscope, Institut François Jacob, CEA, CNRS, Univ Evry, Université Paris-Saclay, 91057, Evry, France. vallenet@genoscope.cns.fr., Vergne-Vaxelaire C; Génomique Métabolique, Genoscope, Institut François Jacob, CEA, CNRS, Univ Evry, Université Paris-Saclay, 91057, Evry, France. carine.vergne@genoscope.cns.fr.
المصدر: Nature communications [Nat Commun] 2024 Jun 10; Vol. 15 (1), pp. 4933. Date of Electronic Publication: 2024 Jun 10.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
مواضيع طبية MeSH: Amines*/metabolism , Amines*/chemistry, Substrate Specificity ; Oxidoreductases Acting on CH-NH Group Donors/metabolism ; Oxidoreductases Acting on CH-NH Group Donors/genetics ; Oxidoreductases Acting on CH-NH Group Donors/chemistry ; Computational Biology/methods ; Biocatalysis ; Biodiversity ; Models, Molecular