복합 말론산 메틸말론산 산성뇨증 (Korean Wikipedia)

Analysis of information sources in references of the Wikipedia article "복합 말론산 메틸말론산 산성뇨증" in Korean language version.

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10doi.org

2^nd place

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9nih.gov

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5worldcat.org

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11^th place

2elsevier.com

610^th place

351^st place

2wiley.com

222^nd place

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1springer.com

274^th place

294^th place

1bmj.com

1,226^th place

829^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.; Rosenblatt, D. S. (2011). “Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype”. 《Journal of Medical Genetics》 (영어) 48 (9): 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593. PMID 21785126.

doi.org

dx.doi.org

de Sain-van der Velden, Monique G. M.; van der Ham, Maria; Jans, Judith J.; Visser, Gepke; Prinsen, Hubertus C. M. T.; Verhoeven-Duif, Nanda M.; van Gassen, Koen L. I.; van Hasselt, Peter M. (2016). Morava, Eva; Baumgartner, Matthias; Patterson, Marc; Rahman, Shamima; Zschocke, Johannes; Peters, Verena, 편집. 《A New Approach for Fast Metabolic Diagnostics in CMAMMA》 30. Berlin, Heidelberg: Springer Berlin Heidelberg. 15–22쪽. 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; Sysol, Justin R (2011). “Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria”. 《Nature Genetics》 (영어) 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779.
Sniderman, Lisa C.; Lambert, Marie; Giguère, Robert; Auray-Blais, Christiane; Lemieux, Bernard; Laframboise, Rachel; Rosenblatt, David S.; Treacy, Eileen P. (1999). “Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program”. 《The Journal of Pediatrics》 (영어) 134 (6): 675–680. doi:10.1016/S0022-3476(99)70280-5. PMID 10356133.
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (2021). “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.; Rosenblatt, D. S. (2011). “Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype”. 《Journal of Medical Genetics》 (영어) 48 (9): 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593. PMID 21785126.
Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute; Tucci, Sara (2019년 11월). “The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism”. 《Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids》 (영어) 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; Mitchell, Grant A. (2019). “Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort”. 《Journal of Inherited Metabolic Disease》 (영어) 42 (1): 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955. PMID 30740739.
Gregg, A. R.; Warman, A. W.; Thorburn, D. R.; O'Brien, W. E. (1998). “Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies”. 《Journal of Inherited Metabolic Disease》 (영어) 21 (4): 382–390. doi:10.1023/A:1005302607897. PMID 9700595.
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (2011). “Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis”. 《Journal of Biological Chemistry》 (영어) 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). “Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria”. 《Molecular Genetics & Genomic Medicine》 (영어) 9 (4): e1621. 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). “Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program”. 《The Journal of Pediatrics》 (영어) 134 (6): 675–680. doi:10.1016/S0022-3476(99)70280-5. PMID 10356133.
Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute; Tucci, Sara (2019년 11월). “The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism”. 《Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids》 (영어) 1864 (11): 1629–1643. doi:10.1016/j.bbalip.2019.07.012.

nih.gov

ncbi.nlm.nih.gov

de Sain-van der Velden, Monique G. M.; van der Ham, Maria; Jans, Judith J.; Visser, Gepke; Prinsen, Hubertus C. M. T.; Verhoeven-Duif, Nanda M.; van Gassen, Koen L. I.; van Hasselt, Peter M. (2016). Morava, Eva; Baumgartner, Matthias; Patterson, Marc; Rahman, Shamima; Zschocke, Johannes; Peters, Verena, 편집. 《A New Approach for Fast Metabolic Diagnostics in CMAMMA》 30. Berlin, Heidelberg: Springer Berlin Heidelberg. 15–22쪽. 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; Sysol, Justin R (2011). “Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria”. 《Nature Genetics》 (영어) 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779.
Sniderman, Lisa C.; Lambert, Marie; Giguère, Robert; Auray-Blais, Christiane; Lemieux, Bernard; Laframboise, Rachel; Rosenblatt, David S.; Treacy, Eileen P. (1999). “Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program”. 《The Journal of Pediatrics》 (영어) 134 (6): 675–680. doi:10.1016/S0022-3476(99)70280-5. PMID 10356133.
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (2021). “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.; Rosenblatt, D. S. (2011). “Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype”. 《Journal of Medical Genetics》 (영어) 48 (9): 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593. PMID 21785126.
Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray‐Blais, Christiane; Clarke, Joe T.R.; Laframboise, Rachel; Maranda, Bruno; Mitchell, Grant A. (2019). “Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort”. 《Journal of Inherited Metabolic Disease》 (영어) 42 (1): 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955. PMID 30740739.
Gregg, A. R.; Warman, A. W.; Thorburn, D. R.; O'Brien, W. E. (1998). “Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies”. 《Journal of Inherited Metabolic Disease》 (영어) 21 (4): 382–390. doi:10.1023/A:1005302607897. PMID 9700595.
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (2011). “Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis”. 《Journal of Biological Chemistry》 (영어) 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). “Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria”. 《Molecular Genetics & Genomic Medicine》 (영어) 9 (4): e1621. doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC 8123733. PMID 33625768.

springer.com

link.springer.com

de Sain-van der Velden, Monique G. M.; van der Ham, Maria; Jans, Judith J.; Visser, Gepke; Prinsen, Hubertus C. M. T.; Verhoeven-Duif, Nanda M.; van Gassen, Koen L. I.; van Hasselt, Peter M. (2016). Morava, Eva; Baumgartner, Matthias; Patterson, Marc; Rahman, Shamima; Zschocke, Johannes; Peters, Verena, 편집. 《A New Approach for Fast Metabolic Diagnostics in CMAMMA》 30. Berlin, Heidelberg: Springer Berlin Heidelberg. 15–22쪽. 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; Mitchell, Grant A. (2019). “Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort”. 《Journal of Inherited Metabolic Disease》 (영어) 42 (1): 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955. PMID 30740739.

doi.wiley.com

Gregg, A. R.; Warman, A. W.; Thorburn, D. R.; O'Brien, W. E. (1998). “Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies”. 《Journal of Inherited Metabolic Disease》 (영어) 21 (4): 382–390. doi:10.1023/A:1005302607897. PMID 9700595.

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; Sysol, Justin R (2011). “Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria”. 《Nature Genetics》 (영어) 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779.
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (2021). “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.; Rosenblatt, D. S. (2011). “Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype”. 《Journal of Medical Genetics》 (영어) 48 (9): 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593. PMID 21785126.
Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray‐Blais, Christiane; Clarke, Joe T.R.; Laframboise, Rachel; Maranda, Bruno; Mitchell, Grant A. (2019). “Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort”. 《Journal of Inherited Metabolic Disease》 (영어) 42 (1): 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955. PMID 30740739.
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. (2021). “Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria”. 《Molecular Genetics & Genomic Medicine》 (영어) 9 (4): e1621. doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC 8123733. PMID 33625768.