Kombinerad malon- och metylmalonsyrauri (Swedish Wikipedia)

Analysis of information sources in references of the Wikipedia article "Kombinerad malon- och metylmalonsyrauri" in Swedish language version.

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10doi.org

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5worldcat.org

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4nih.gov

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17^th place

3elsevier.com

610^th place

590^th place

3wiley.com

222^nd place

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1springer.com

274^th place

271^st place

1nature.com

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1frontiersin.org

4,679^th place

2,033^rd place

1bmj.com

1,226^th place

1,106^th place

bmj.com

jmg.bmj.com

Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N. (2011-09-01). ”Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype” (på engelska). Journal of Medical Genetics 48 (9): sid. 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593. https://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2011-100230.

doi.org

dx.doi.org

de Sain-van der Velden, Monique G. M. (2016). Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters. red. A New Approach for Fast Metabolic Diagnostics in CMAMMA. "30". Springer Berlin Heidelberg. sid. 15–22. doi:10.1007/8904_2016_531. ISBN 978-3-662-53680-3. http://link.springer.com/10.1007/8904_2016_531
NIH Intramural Sequencing Center Group; Sloan, Jennifer L; Johnston, Jennifer J; Manoli, Irini; Chandler, Randy J; Krause, Caitlin (2011-09). ”Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria” (på engelska). Nature Genetics 43 (9): sid. 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMID 21841779. PMC: 3163731. http://www.nature.com/articles/ng.908.
Sniderman, Lisa C.; Lambert, Marie; Giguère, Robert; Auray-Blais, Christiane; Lemieux, Bernard; Laframboise, Rachel (1999-06). ”Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program” (på engelska). The Journal of Pediatrics 134 (6): sid. 675–680. doi:10.1016/S0022-3476(99)70280-5. https://linkinghub.elsevier.com/retrieve/pii/S0022347699702805.
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua (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: sid. 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMID 34900860. PMC: 8658908. https://www.frontiersin.org/articles/10.3389/fped.2021.751895/full.
Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N. (2011-09-01). ”Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype” (på engelska). Journal of Medical Genetics 48 (9): sid. 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593. https://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2011-100230.
Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute (2019-11). ”The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism” (på engelska). Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1864 (11): sid. 1629–1643. doi:10.1016/j.bbalip.2019.07.012. https://linkinghub.elsevier.com/retrieve/pii/S1388198119301349.
Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray‐Blais, Christiane; Clarke, Joe T.R. (2019-01). ”Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort” (på engelska). Journal of Inherited Metabolic Disease 42 (1): sid. 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955. https://onlinelibrary.wiley.com/doi/10.1002/jimd.12032.
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” (på engelska). Journal of Inherited Metabolic Disease 21 (4): sid. 382–390. doi:10.1023/A:1005302607897. http://doi.wiley.com/10.1023/A%3A1005302607897.
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” (på engelska). Journal of Biological Chemistry 286 (39): sid. 33729–33736. doi:10.1074/jbc.M111.291591. PMID 21846720. PMC: 3190830. https://linkinghub.elsevier.com/retrieve/pii/S0021925820739189.
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” (på engelska). Molecular Genetics & Genomic Medicine 9 (4). doi:10.1002/mgg3.1621. ISSN 2324-9269. PMID 33625768. PMC: 8123733. https://onlinelibrary.wiley.com/doi/10.1002/mgg3.1621.

elsevier.com

linkinghub.elsevier.com

Sniderman, Lisa C.; Lambert, Marie; Giguère, Robert; Auray-Blais, Christiane; Lemieux, Bernard; Laframboise, Rachel (1999-06). ”Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program” (på engelska). The Journal of Pediatrics 134 (6): sid. 675–680. doi:10.1016/S0022-3476(99)70280-5. https://linkinghub.elsevier.com/retrieve/pii/S0022347699702805.
Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute (2019-11). ”The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism” (på engelska). Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1864 (11): sid. 1629–1643. doi:10.1016/j.bbalip.2019.07.012. https://linkinghub.elsevier.com/retrieve/pii/S1388198119301349.
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” (på engelska). Journal of Biological Chemistry 286 (39): sid. 33729–33736. doi:10.1074/jbc.M111.291591. PMID 21846720. PMC: 3190830. https://linkinghub.elsevier.com/retrieve/pii/S0021925820739189.

frontiersin.org

Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua (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: sid. 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMID 34900860. PMC: 8658908. https://www.frontiersin.org/articles/10.3389/fped.2021.751895/full.

nature.com

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

nih.gov

ncbi.nlm.nih.gov

NIH Intramural Sequencing Center Group; Sloan, Jennifer L; Johnston, Jennifer J; Manoli, Irini; Chandler, Randy J; Krause, Caitlin (2011-09). ”Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria” (på engelska). Nature Genetics 43 (9): sid. 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMID 21841779. PMC: 3163731. http://www.nature.com/articles/ng.908.
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua (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: sid. 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMID 34900860. PMC: 8658908. https://www.frontiersin.org/articles/10.3389/fped.2021.751895/full.
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” (på engelska). Journal of Biological Chemistry 286 (39): sid. 33729–33736. doi:10.1074/jbc.M111.291591. PMID 21846720. PMC: 3190830. https://linkinghub.elsevier.com/retrieve/pii/S0021925820739189.
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” (på engelska). Molecular Genetics & Genomic Medicine 9 (4). doi:10.1002/mgg3.1621. ISSN 2324-9269. PMID 33625768. PMC: 8123733. https://onlinelibrary.wiley.com/doi/10.1002/mgg3.1621.

springer.com

link.springer.com

de Sain-van der Velden, Monique G. M. (2016). Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters. red. A New Approach for Fast Metabolic Diagnostics in CMAMMA. "30". Springer Berlin Heidelberg. sid. 15–22. doi:10.1007/8904_2016_531. ISBN 978-3-662-53680-3. http://link.springer.com/10.1007/8904_2016_531

wiley.com

onlinelibrary.wiley.com

Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray‐Blais, Christiane; Clarke, Joe T.R. (2019-01). ”Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort” (på engelska). Journal of Inherited Metabolic Disease 42 (1): sid. 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955. https://onlinelibrary.wiley.com/doi/10.1002/jimd.12032.
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” (på engelska). Molecular Genetics & Genomic Medicine 9 (4). doi:10.1002/mgg3.1621. ISSN 2324-9269. PMID 33625768. PMC: 8123733. https://onlinelibrary.wiley.com/doi/10.1002/mgg3.1621.

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” (på engelska). Journal of Inherited Metabolic Disease 21 (4): sid. 382–390. doi:10.1023/A:1005302607897. http://doi.wiley.com/10.1023/A%3A1005302607897.

worldcat.org

NIH Intramural Sequencing Center Group; Sloan, Jennifer L; Johnston, Jennifer J; Manoli, Irini; Chandler, Randy J; Krause, Caitlin (2011-09). ”Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria” (på engelska). Nature Genetics 43 (9): sid. 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMID 21841779. PMC: 3163731. http://www.nature.com/articles/ng.908.
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua (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: sid. 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMID 34900860. PMC: 8658908. https://www.frontiersin.org/articles/10.3389/fped.2021.751895/full.
Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N. (2011-09-01). ”Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype” (på engelska). Journal of Medical Genetics 48 (9): sid. 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593. https://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2011-100230.
Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray‐Blais, Christiane; Clarke, Joe T.R. (2019-01). ”Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort” (på engelska). Journal of Inherited Metabolic Disease 42 (1): sid. 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955. https://onlinelibrary.wiley.com/doi/10.1002/jimd.12032.
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” (på engelska). Molecular Genetics & Genomic Medicine 9 (4). doi:10.1002/mgg3.1621. ISSN 2324-9269. PMID 33625768. PMC: 8123733. https://onlinelibrary.wiley.com/doi/10.1002/mgg3.1621.