マロン酸およびメチルマロン酸尿合併症 (Japanese Wikipedia)

Analysis of information sources in references of the Wikipedia article "マロン酸およびメチルマロン酸尿合併症" in Japanese language version.

refsWebsite

Global rank Japanese rank

10doi.org

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10nih.gov

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5worldcat.org

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3elsevier.com

610^th place

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3wiley.com

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498^th place

1springer.com

274^th place

596^th place

1nature.com

234^th place

363^rd place

1frontiersin.org

4,679^th place

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1bmj.com

1,226^th place

1,988^th place

bmj.com

jmg.bmj.com

Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N.; Ha, K. C. H.; Majewski, J. et al. (2011-09-01). “Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype” (英語). Journal of Medical Genetics 48 (9): 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593.

doi.org

de Sain-van der VeldenMonique G. M.; van der HamMaria; JansJudith J.; VisserGepke; PrinsenHubertus C. M. T.; Verhoeven-DuifNanda M.; van GassenKoen L. I.; van HasseltPeter M. 著、MoravaEva; BaumgartnerMatthias 編『A New Approach for Fast Metabolic Diagnostics in CMAMMA』 30巻、Springer Berlin Heidelberg、2016年、15–22頁。doi:10.1007/8904_2016_531。ISBN 978-3-662-53680-3。PMC 5110436。PMID 26915364。
NIH Intramural Sequencing Center Group; Sloan, Jennifer L; Johnston, Jennifer J; Manoli, Irini; Chandler, Randy J; Krause, Caitlin; Carrillo-Carrasco, Nuria; Chandrasekaran, Suma D et al. (2011-09). “Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria” (英語). Nature Genetics 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779. http://www.nature.com/articles/ng.908.
Sniderman, Lisa C.; Lambert, Marie; Giguère, Robert; Auray-Blais, Christiane; Lemieux, Bernard; Laframboise, Rachel; Rosenblatt, David S.; Treacy, Eileen P. (1999-06). “Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program” (英語). The Journal of Pediatrics 134 (6): 675–680. doi:10.1016/S0022-3476(99)70280-5.
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (2021-11-25). “Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients”. Frontiers in Pediatrics 9: 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMC 8658908. PMID 34900860.
Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N.; Ha, K. C. H.; Majewski, J. et al. (2011-09-01). “Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype” (英語). Journal of Medical Genetics 48 (9): 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593.
Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute; Tucci, Sara (2019-11). “The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism” (英語). Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1864 (11): 1629–1643. doi:10.1016/j.bbalip.2019.07.012.
Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray‐Blais, Christiane; Clarke, Joe T.R.; Laframboise, Rachel; Maranda, Bruno et al. (2019-01). “Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort” (英語). Journal of Inherited Metabolic Disease 42 (1): 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955.
Gregg, A. R.; Warman, A. W.; Thorburn, D. R.; O'Brien, W. E. (1998-06). “Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies” (英語). Journal of Inherited Metabolic Disease 21 (4): 382–390. doi:10.1023/A:1005302607897.
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (2011-09). “Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis” (英語). Journal of Biological Chemistry 286 (39): 33729–33736. doi:10.1074/jbc.M111.291591. PMC 3190830. PMID 21846720.
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. (2021-04). “Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria” (英語). Molecular Genetics & Genomic Medicine 9 (4). doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC 8123733. PMID 33625768.

elsevier.com

linkinghub.elsevier.com

Sniderman, Lisa C.; Lambert, Marie; Giguère, Robert; Auray-Blais, Christiane; Lemieux, Bernard; Laframboise, Rachel; Rosenblatt, David S.; Treacy, Eileen P. (1999-06). “Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program” (英語). The Journal of Pediatrics 134 (6): 675–680. doi:10.1016/S0022-3476(99)70280-5.
Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute; Tucci, Sara (2019-11). “The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism” (英語). Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1864 (11): 1629–1643. doi:10.1016/j.bbalip.2019.07.012.
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (2011-09). “Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis” (英語). Journal of Biological Chemistry 286 (39): 33729–33736. doi:10.1074/jbc.M111.291591. PMC 3190830. PMID 21846720.

frontiersin.org

Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (2021-11-25). “Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients”. Frontiers in Pediatrics 9: 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMC 8658908. PMID 34900860.

nature.com

NIH Intramural Sequencing Center Group; Sloan, Jennifer L; Johnston, Jennifer J; Manoli, Irini; Chandler, Randy J; Krause, Caitlin; Carrillo-Carrasco, Nuria; Chandrasekaran, Suma D et al. (2011-09). “Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria” (英語). Nature Genetics 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779. http://www.nature.com/articles/ng.908.

nih.gov

ncbi.nlm.nih.gov

de Sain-van der VeldenMonique G. M.; van der HamMaria; JansJudith J.; VisserGepke; PrinsenHubertus C. M. T.; Verhoeven-DuifNanda M.; van GassenKoen L. I.; van HasseltPeter M. 著、MoravaEva; BaumgartnerMatthias 編『A New Approach for Fast Metabolic Diagnostics in CMAMMA』 30巻、Springer Berlin Heidelberg、2016年、15–22頁。doi:10.1007/8904_2016_531。ISBN 978-3-662-53680-3。PMC 5110436。PMID 26915364。
NIH Intramural Sequencing Center Group; Sloan, Jennifer L; Johnston, Jennifer J; Manoli, Irini; Chandler, Randy J; Krause, Caitlin; Carrillo-Carrasco, Nuria; Chandrasekaran, Suma D et al. (2011-09). “Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria” (英語). Nature Genetics 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779. http://www.nature.com/articles/ng.908.
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (2021-11-25). “Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients”. Frontiers in Pediatrics 9: 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMC 8658908. PMID 34900860.
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (2011-09). “Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis” (英語). Journal of Biological Chemistry 286 (39): 33729–33736. doi:10.1074/jbc.M111.291591. PMC 3190830. PMID 21846720.
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. (2021-04). “Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria” (英語). Molecular Genetics & Genomic Medicine 9 (4). doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC 8123733. PMID 33625768.

pubmed.ncbi.nlm.nih.gov

de Sain-van der VeldenMonique G. M.; van der HamMaria; JansJudith J.; VisserGepke; PrinsenHubertus C. M. T.; Verhoeven-DuifNanda M.; van GassenKoen L. I.; van HasseltPeter M. 著、MoravaEva; BaumgartnerMatthias 編『A New Approach for Fast Metabolic Diagnostics in CMAMMA』 30巻、Springer Berlin Heidelberg、2016年、15–22頁。doi:10.1007/8904_2016_531。ISBN 978-3-662-53680-3。PMC 5110436。PMID 26915364。
NIH Intramural Sequencing Center Group; Sloan, Jennifer L; Johnston, Jennifer J; Manoli, Irini; Chandler, Randy J; Krause, Caitlin; Carrillo-Carrasco, Nuria; Chandrasekaran, Suma D et al. (2011-09). “Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria” (英語). Nature Genetics 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779. http://www.nature.com/articles/ng.908.
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (2021-11-25). “Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients”. Frontiers in Pediatrics 9: 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMC 8658908. PMID 34900860.
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (2011-09). “Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis” (英語). Journal of Biological Chemistry 286 (39): 33729–33736. doi:10.1074/jbc.M111.291591. PMC 3190830. PMID 21846720.
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. (2021-04). “Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria” (英語). Molecular Genetics & Genomic Medicine 9 (4). doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC 8123733. PMID 33625768.

springer.com

link.springer.com

de Sain-van der VeldenMonique G. M.; van der HamMaria; JansJudith J.; VisserGepke; PrinsenHubertus C. M. T.; Verhoeven-DuifNanda M.; van GassenKoen L. I.; van HasseltPeter M. 著、MoravaEva; BaumgartnerMatthias 編『A New Approach for Fast Metabolic Diagnostics in CMAMMA』 30巻、Springer Berlin Heidelberg、2016年、15–22頁。doi:10.1007/8904_2016_531。ISBN 978-3-662-53680-3。PMC 5110436。PMID 26915364。

wiley.com

onlinelibrary.wiley.com

Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray‐Blais, Christiane; Clarke, Joe T.R.; Laframboise, Rachel; Maranda, Bruno et al. (2019-01). “Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort” (英語). Journal of Inherited Metabolic Disease 42 (1): 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955.
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. (2021-04). “Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria” (英語). Molecular Genetics & Genomic Medicine 9 (4). doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC 8123733. PMID 33625768.

doi.wiley.com

Gregg, A. R.; Warman, A. W.; Thorburn, D. R.; O'Brien, W. E. (1998-06). “Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies” (英語). Journal of Inherited Metabolic Disease 21 (4): 382–390. doi:10.1023/A:1005302607897.

worldcat.org

search.worldcat.org

NIH Intramural Sequencing Center Group; Sloan, Jennifer L; Johnston, Jennifer J; Manoli, Irini; Chandler, Randy J; Krause, Caitlin; Carrillo-Carrasco, Nuria; Chandrasekaran, Suma D et al. (2011-09). “Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria” (英語). Nature Genetics 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779. http://www.nature.com/articles/ng.908.
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (2021-11-25). “Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients”. Frontiers in Pediatrics 9: 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMC 8658908. PMID 34900860.
Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N.; Ha, K. C. H.; Majewski, J. et al. (2011-09-01). “Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype” (英語). Journal of Medical Genetics 48 (9): 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593.
Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray‐Blais, Christiane; Clarke, Joe T.R.; Laframboise, Rachel; Maranda, Bruno et al. (2019-01). “Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort” (英語). Journal of Inherited Metabolic Disease 42 (1): 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955.
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. (2021-04). “Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria” (英語). Molecular Genetics & Genomic Medicine 9 (4). doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC 8123733. PMID 33625768.