Kombinert malonsyre og metylmalonsyreuri (Norwegian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Kombinert malonsyre og metylmalonsyreuri" in Norwegian language version.

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10doi.org

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5nih.gov

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5worldcat.org

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3elsevier.com

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3wiley.com

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1springer.com

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1nature.com

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1frontiersin.org

4,679^th place

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1bmj.com

1,226^th place

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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. (1. september 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. 9 (på engelsk). 48: 602–605. ISSN 0022-2593. doi:10.1136/jmedgenet-2011-100230.

doi.org

de Sain-van der Velden, Monique G. M. (2016). «A New Approach for Fast Metabolic Diagnostics in CMAMMA». I Morava, Eva. JIMD Reports, Volume 30. 30. Springer Berlin Heidelberg. s. 15–22. ISBN 978-3-662-53680-3. PMC 5110436 . PMID 26915364. doi:10.1007/8904_2016_531. CS1-vedlikehold: PMC-format (link)
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 (september 2011). «Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria». Nature Genetics. 9 (på engelsk). 43: 883–886. ISSN 1061-4036. PMC 3163731 . PMID 21841779. doi:10.1038/ng.908. CS1-vedlikehold: PMC-format (link)
Sniderman, Lisa C.; Lambert, Marie; Giguère, Robert; Auray-Blais, Christiane; Lemieux, Bernard; Laframboise, Rachel; Rosenblatt, David S.; Treacy, Eileen P. (juni 1999). «Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program». The Journal of Pediatrics. 6 (på engelsk). 134: 675–680. doi:10.1016/S0022-3476(99)70280-5.
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (25. november 2021). «Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients». Frontiers in Pediatrics. 9: 751895. ISSN 2296-2360. PMC 8658908 . PMID 34900860. doi:10.3389/fped.2021.751895. CS1-vedlikehold: PMC-format (link)
Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N.; Ha, K. C. H.; Majewski, J.; Rosenblatt, D. S. (1. september 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. 9 (på engelsk). 48: 602–605. ISSN 0022-2593. doi:10.1136/jmedgenet-2011-100230.
Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute; Tucci, Sara (november 2019). «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. 11 (på engelsk). 1864: 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. (januar 2019). «Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort». Journal of Inherited Metabolic Disease. 1 (på engelsk). 42: 107–116. ISSN 0141-8955. doi:10.1002/jimd.12032.
Gregg, A. R.; Warman, A. W.; Thorburn, D. R.; O'Brien, W. E. (juni 1998). «Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies». Journal of Inherited Metabolic Disease. 4 (på engelsk). 21: 382–390. doi:10.1023/A:1005302607897.
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (september 2011). «Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis». Journal of Biological Chemistry. 39 (på engelsk). 286: 33729–33736. PMC 3190830 . PMID 21846720. doi:10.1074/jbc.M111.291591. CS1-vedlikehold: PMC-format (link)
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. (april 2021). «Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria». Molecular Genetics & Genomic Medicine. 4 (på engelsk). 9. ISSN 2324-9269. PMC 8123733 . PMID 33625768. doi:10.1002/mgg3.1621. CS1-vedlikehold: PMC-format (link)

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. (juni 1999). «Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program». The Journal of Pediatrics. 6 (på engelsk). 134: 675–680. doi:10.1016/S0022-3476(99)70280-5.
Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute; Tucci, Sara (november 2019). «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. 11 (på engelsk). 1864: 1629–1643. doi:10.1016/j.bbalip.2019.07.012.
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (september 2011). «Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis». Journal of Biological Chemistry. 39 (på engelsk). 286: 33729–33736. PMC 3190830 . PMID 21846720. doi:10.1074/jbc.M111.291591. CS1-vedlikehold: PMC-format (link)

frontiersin.org

Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (25. november 2021). «Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients». Frontiers in Pediatrics. 9: 751895. ISSN 2296-2360. PMC 8658908 . PMID 34900860. doi:10.3389/fped.2021.751895. CS1-vedlikehold: PMC-format (link)

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; Sysol, Justin R (september 2011). «Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria». Nature Genetics. 9 (på engelsk). 43: 883–886. ISSN 1061-4036. PMC 3163731 . PMID 21841779. doi:10.1038/ng.908. CS1-vedlikehold: PMC-format (link)

nih.gov

ncbi.nlm.nih.gov

de Sain-van der Velden, Monique G. M. (2016). «A New Approach for Fast Metabolic Diagnostics in CMAMMA». I Morava, Eva. JIMD Reports, Volume 30. 30. Springer Berlin Heidelberg. s. 15–22. ISBN 978-3-662-53680-3. PMC 5110436 . PMID 26915364. doi:10.1007/8904_2016_531. CS1-vedlikehold: PMC-format (link)
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 (september 2011). «Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria». Nature Genetics. 9 (på engelsk). 43: 883–886. ISSN 1061-4036. PMC 3163731 . PMID 21841779. doi:10.1038/ng.908. CS1-vedlikehold: PMC-format (link)
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (25. november 2021). «Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients». Frontiers in Pediatrics. 9: 751895. ISSN 2296-2360. PMC 8658908 . PMID 34900860. doi:10.3389/fped.2021.751895. CS1-vedlikehold: PMC-format (link)
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (september 2011). «Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis». Journal of Biological Chemistry. 39 (på engelsk). 286: 33729–33736. PMC 3190830 . PMID 21846720. doi:10.1074/jbc.M111.291591. CS1-vedlikehold: PMC-format (link)
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. (april 2021). «Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria». Molecular Genetics & Genomic Medicine. 4 (på engelsk). 9. ISSN 2324-9269. PMC 8123733 . PMID 33625768. doi:10.1002/mgg3.1621. CS1-vedlikehold: PMC-format (link)

springer.com

link.springer.com

de Sain-van der Velden, Monique G. M. (2016). «A New Approach for Fast Metabolic Diagnostics in CMAMMA». I Morava, Eva. JIMD Reports, Volume 30. 30. Springer Berlin Heidelberg. s. 15–22. ISBN 978-3-662-53680-3. PMC 5110436 . PMID 26915364. doi:10.1007/8904_2016_531. CS1-vedlikehold: PMC-format (link)

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. (januar 2019). «Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort». Journal of Inherited Metabolic Disease. 1 (på engelsk). 42: 107–116. ISSN 0141-8955. doi:10.1002/jimd.12032.
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. (april 2021). «Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria». Molecular Genetics & Genomic Medicine. 4 (på engelsk). 9. ISSN 2324-9269. PMC 8123733 . PMID 33625768. doi:10.1002/mgg3.1621. CS1-vedlikehold: PMC-format (link)

doi.wiley.com

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

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 (september 2011). «Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria». Nature Genetics. 9 (på engelsk). 43: 883–886. ISSN 1061-4036. PMC 3163731 . PMID 21841779. doi:10.1038/ng.908. CS1-vedlikehold: PMC-format (link)
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (25. november 2021). «Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients». Frontiers in Pediatrics. 9: 751895. ISSN 2296-2360. PMC 8658908 . PMID 34900860. doi:10.3389/fped.2021.751895. CS1-vedlikehold: PMC-format (link)
Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N.; Ha, K. C. H.; Majewski, J.; Rosenblatt, D. S. (1. september 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. 9 (på engelsk). 48: 602–605. ISSN 0022-2593. doi:10.1136/jmedgenet-2011-100230.
Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray‐Blais, Christiane; Clarke, Joe T.R.; Laframboise, Rachel; Maranda, Bruno; Mitchell, Grant A. (januar 2019). «Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort». Journal of Inherited Metabolic Disease. 1 (på engelsk). 42: 107–116. ISSN 0141-8955. doi:10.1002/jimd.12032.
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. (april 2021). «Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria». Molecular Genetics & Genomic Medicine. 4 (på engelsk). 9. ISSN 2324-9269. PMC 8123733 . PMID 33625768. doi:10.1002/mgg3.1621. CS1-vedlikehold: PMC-format (link)