Combined malonic and methylmalonic aciduria (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Combined malonic and methylmalonic aciduria" in English language version.

refsWebsite

Global rank English rank

36nih.gov

4^th place

25doi.org

2^nd place

13worldcat.org

5^th place

9semanticscholar.org

11^th place

8^th place

5wiley.com

222^nd place

297^th place

4elsevier.com

610^th place

704^th place

1urn.fi

8,035^th place

low place

1web.archive.org

1^st place

1quebec.ca

low place

1mayocliniclabs.com

low place

1liebertpub.com

low place

1modernatx.com

low place

1omim.org

4,380^th place

4,305^th place

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 (eds.), "A New Approach for Fast Metabolic Diagnostics in CMAMMA", JIMD Reports, Volume 30, vol. 30, Berlin, Heidelberg: Springer Berlin Heidelberg, pp. 15–22, doi:10.1007/8904_2016_531, ISBN 978-3-662-53680-3, PMC 5110436, PMID 26915364
Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray-Blais, Christiane; Clarke, Joe T.R.; Laframboise, Rachel; Maranda, Bruno; Mitchell, Grant A.; Brunel-Guitton, Catherine; Braverman, Nancy E. (2019). "Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort". Journal of Inherited Metabolic Disease. 42 (1): 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955. PMID 30740739. S2CID 73436689.
Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute; Tucci, Sara (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. 1864 (11): 1629–1643. doi:10.1016/j.bbalip.2019.07.012. PMID 31376476. S2CID 199404906.
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; O'Brien, Kevin; Hauser, Natalie S (2011). "Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria". Nature Genetics. 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. 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.; Braverman, N. (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. 48 (9): 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593. PMID 21785126. S2CID 19352176.
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. 21 (4): 382–390. doi:10.1023/A:1005302607897. PMID 9700595. S2CID 20212973.
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. 286 (39): 33729–33736. doi:10.1074/jbc.M111.291591. PMC 3190830. PMID 21846720.
Lee, Joon Kee; Oh, Arum (2023). "Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report". Journal of Korean Medical Science. 38 (45): e387. doi:10.3346/jkms.2023.38.e387. ISSN 1011-8934. PMC 10659923. PMID 37987109.
Bowman, Caitlyn E.; Wolfgang, Michael J. (2019). "Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism". Advances in Biological Regulation. 71: 34–40. doi:10.1016/j.jbior.2018.09.002. PMC 6347522. PMID 30201289.
Bowman, Caitlyn E.; Rodriguez, Susana; Selen Alpergin, Ebru S.; Acoba, Michelle G.; Zhao, Liang; Hartung, Thomas; Claypool, Steven M.; Watkins, Paul A.; Wolfgang, Michael J. (2017). "The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency". Cell Chemical Biology. 24 (6): 673–684.e4. doi:10.1016/j.chembiol.2017.04.009. ISSN 2451-9456. PMC 5482780. PMID 28479296.
Tucci, Sara (2020). "Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria". Orphanet Journal of Rare Diseases. 15 (1): 27. doi:10.1186/s13023-020-1299-7. ISSN 1750-1172. PMC 6977288. PMID 31969167.
Mayr, Johannes A.; Feichtinger, René G.; Tort, Frederic; Ribes, Antonia; Sperl, Wolfgang (2014). "Lipoic acid biosynthesis defects". Journal of Inherited Metabolic Disease. 37 (4): 553–563. doi:10.1007/s10545-014-9705-8. ISSN 0141-8955. PMID 24777537.
Monteuuis, Geoffray; Suomi, Fumi; Kerätär, Juha M.; Masud, Ali J.; Kastaniotis, Alexander J. (2017-11-06). "A conserved mammalian mitochondrial isoform of acetyl-CoA carboxylase ACC1 provides the malonyl-CoA essential for mitochondrial biogenesis in tandem with ACSF3". Biochemical Journal. 474 (22): 3783–3797. doi:10.1042/bcj20170416. PMID 28986507.
Thompson, G.N.; Walter, J.H.; Bresson, J.-L.; Ford, G.C.; Lyonnet, S.L.; Chalmers, R.A.; Saudubray, J.-M.; Leonard, J.V.; Halliday, D. (1990). "Sources of propionate in inborn errors of propionate metabolism". Metabolism. 39 (11): 1133–1137. doi:10.1016/0026-0495(90)90084-P. PMID 2233273.
Scharinger, Marwa; Kuntz, Marcel; Scharinger, Andreas; Teipel, Jan; Kuballa, Thomas; Walch, Stephan G.; Lachenmeier, Dirk W. (2021-03-03). "Rapid Approach to Determine Propionic and Sorbic Acid Contents in Bread and Bakery Products Using 1H NMR Spectroscopy". Foods. 10 (3): 526. doi:10.3390/foods10030526. ISSN 2304-8158. PMC 7998730. PMID 33802459.
Yamamura, T; Okamoto, Y; Okada, G; Takaishi, Y; Takamura, M; Mantani, A; Kurata, A; Otagaki, Y; Yamashita, H; Yamawaki, S (2016). "Association of thalamic hyperactivity with treatment-resistant depression and poor response in early treatment for major depression: a resting-state fMRI study using fractional amplitude of low-frequency fluctuations". Translational Psychiatry. 6 (3): e754. doi:10.1038/tp.2016.18. ISSN 2158-3188. PMC 4872444. PMID 26954981.
McLaughlin, B.A; Nelson, D; Silver, I.A; Erecinska, M; Chesselet, M.-F (1998). "Methylmalonate toxicity in primary neuronal cultures". Neuroscience. 86 (1): 279–290. doi:10.1016/S0306-4522(97)00594-0. PMID 9692761. S2CID 28386770.
Kölker, S.; Ahlmeyer, B.; Krieglstein, J.; Hoffmann, G. F. (2000). "Methylmalonic acid induces excitotoxic neuronal damage in vitro". Journal of Inherited Metabolic Disease. 23 (4): 355–358. doi:10.1023/A:1005631230455. PMID 10896293. S2CID 10374239.
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. 9 (4): e1621. doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC 8123733. PMID 33625768.
Martini, Paolo G.V.; Guey, Lin T. (2019). "A New Era for Rare Genetic Diseases: Messenger RNA Therapy". Human Gene Therapy. 30 (10): 1180–1189. doi:10.1089/hum.2019.090. ISSN 1043-0342. PMID 31179759. S2CID 182947527.
Brown, G. K.; Scholem, R. D.; Bankier, A.; Danks, D. M. (1984). "Malonyl coenzyme a decarboxylase deficiency". Journal of Inherited Metabolic Disease. 7 (1): 21–26. doi:10.1007/BF01805615. ISSN 0141-8955. PMID 6145813. S2CID 33045087.
Ozand, P.T.; Nyhan, W.L.; Al Aqeel, A.; Christodoulou, J. (1994). "Malonic aciduria". Brain and Development. 16: 7–11. doi:10.1016/0387-7604(94)90091-4. PMID 7537025. S2CID 4768844.

dx.doi.org

Bowman, Caitlyn E.; Rodriguez, Susana; Selen Alpergin, Ebru S.; Acoba, Michelle G.; Zhao, Liang; Hartung, Thomas; Claypool, Steven M.; Watkins, Paul A.; Wolfgang, Michael J. (2017). "The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency". Cell Chemical Biology. 24 (6): 673–684.e4. doi:10.1016/j.chembiol.2017.04.009. ISSN 2451-9456. PMC 5482780. PMID 28479296.

elsevier.com

linkinghub.elsevier.com

Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute; Tucci, Sara (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. 1864 (11): 1629–1643. doi:10.1016/j.bbalip.2019.07.012. PMID 31376476. S2CID 199404906.
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. 134 (6): 675–680. doi:10.1016/S0022-3476(99)70280-5. PMID 10356133.
Thompson, G.N.; Walter, J.H.; Bresson, J.-L.; Ford, G.C.; Lyonnet, S.L.; Chalmers, R.A.; Saudubray, J.-M.; Leonard, J.V.; Halliday, D. (1990). "Sources of propionate in inborn errors of propionate metabolism". Metabolism. 39 (11): 1133–1137. doi:10.1016/0026-0495(90)90084-P. PMID 2233273.
Ozand, P.T.; Nyhan, W.L.; Al Aqeel, A.; Christodoulou, J. (1994). "Malonic aciduria". Brain and Development. 16: 7–11. doi:10.1016/0387-7604(94)90091-4. PMID 7537025. S2CID 4768844.

liebertpub.com

Martini, Paolo G.V.; Guey, Lin T. (2019). "A New Era for Rare Genetic Diseases: Messenger RNA Therapy". Human Gene Therapy. 30 (10): 1180–1189. doi:10.1089/hum.2019.090. ISSN 1043-0342. PMID 31179759. S2CID 182947527.

mayocliniclabs.com

"Targeted Genes and Methodology Details for Methylmalonic Aciduria Gene Panel". Mayo Clinic Laboratories. Retrieved 2024-05-16.

modernatx.com

trials.modernatx.com

"A Clinical Trial of a Treatment for Patients with Methylmalonic Acidemia (MMA)". trials.modernatx.com. Retrieved 2022-06-20.

nih.gov

pubmed.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 (eds.), "A New Approach for Fast Metabolic Diagnostics in CMAMMA", JIMD Reports, Volume 30, vol. 30, Berlin, Heidelberg: Springer Berlin Heidelberg, pp. 15–22, doi:10.1007/8904_2016_531, ISBN 978-3-662-53680-3, PMC 5110436, PMID 26915364
Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray-Blais, Christiane; Clarke, Joe T.R.; Laframboise, Rachel; Maranda, Bruno; Mitchell, Grant A.; Brunel-Guitton, Catherine; Braverman, Nancy E. (2019). "Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort". Journal of Inherited Metabolic Disease. 42 (1): 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955. PMID 30740739. S2CID 73436689.
Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute; Tucci, Sara (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. 1864 (11): 1629–1643. doi:10.1016/j.bbalip.2019.07.012. PMID 31376476. S2CID 199404906.
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; O'Brien, Kevin; Hauser, Natalie S (2011). "Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria". Nature Genetics. 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. 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.; Braverman, N. (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. 48 (9): 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593. PMID 21785126. S2CID 19352176.
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. 21 (4): 382–390. doi:10.1023/A:1005302607897. PMID 9700595. S2CID 20212973.
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. 286 (39): 33729–33736. doi:10.1074/jbc.M111.291591. PMC 3190830. PMID 21846720.
Lee, Joon Kee; Oh, Arum (2023). "Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report". Journal of Korean Medical Science. 38 (45): e387. doi:10.3346/jkms.2023.38.e387. ISSN 1011-8934. PMC 10659923. PMID 37987109.
Bowman, Caitlyn E.; Wolfgang, Michael J. (2019). "Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism". Advances in Biological Regulation. 71: 34–40. doi:10.1016/j.jbior.2018.09.002. PMC 6347522. PMID 30201289.
Bowman, Caitlyn E.; Rodriguez, Susana; Selen Alpergin, Ebru S.; Acoba, Michelle G.; Zhao, Liang; Hartung, Thomas; Claypool, Steven M.; Watkins, Paul A.; Wolfgang, Michael J. (2017). "The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency". Cell Chemical Biology. 24 (6): 673–684.e4. doi:10.1016/j.chembiol.2017.04.009. ISSN 2451-9456. PMC 5482780. PMID 28479296.
Tucci, Sara (2020). "Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria". Orphanet Journal of Rare Diseases. 15 (1): 27. doi:10.1186/s13023-020-1299-7. ISSN 1750-1172. PMC 6977288. PMID 31969167.
Mayr, Johannes A.; Feichtinger, René G.; Tort, Frederic; Ribes, Antonia; Sperl, Wolfgang (2014). "Lipoic acid biosynthesis defects". Journal of Inherited Metabolic Disease. 37 (4): 553–563. doi:10.1007/s10545-014-9705-8. ISSN 0141-8955. PMID 24777537.
Monteuuis, Geoffray; Suomi, Fumi; Kerätär, Juha M.; Masud, Ali J.; Kastaniotis, Alexander J. (2017-11-06). "A conserved mammalian mitochondrial isoform of acetyl-CoA carboxylase ACC1 provides the malonyl-CoA essential for mitochondrial biogenesis in tandem with ACSF3". Biochemical Journal. 474 (22): 3783–3797. doi:10.1042/bcj20170416. PMID 28986507.
Thompson, G.N.; Walter, J.H.; Bresson, J.-L.; Ford, G.C.; Lyonnet, S.L.; Chalmers, R.A.; Saudubray, J.-M.; Leonard, J.V.; Halliday, D. (1990). "Sources of propionate in inborn errors of propionate metabolism". Metabolism. 39 (11): 1133–1137. doi:10.1016/0026-0495(90)90084-P. PMID 2233273.
Scharinger, Marwa; Kuntz, Marcel; Scharinger, Andreas; Teipel, Jan; Kuballa, Thomas; Walch, Stephan G.; Lachenmeier, Dirk W. (2021-03-03). "Rapid Approach to Determine Propionic and Sorbic Acid Contents in Bread and Bakery Products Using 1H NMR Spectroscopy". Foods. 10 (3): 526. doi:10.3390/foods10030526. ISSN 2304-8158. PMC 7998730. PMID 33802459.
Yamamura, T; Okamoto, Y; Okada, G; Takaishi, Y; Takamura, M; Mantani, A; Kurata, A; Otagaki, Y; Yamashita, H; Yamawaki, S (2016). "Association of thalamic hyperactivity with treatment-resistant depression and poor response in early treatment for major depression: a resting-state fMRI study using fractional amplitude of low-frequency fluctuations". Translational Psychiatry. 6 (3): e754. doi:10.1038/tp.2016.18. ISSN 2158-3188. PMC 4872444. PMID 26954981.
McLaughlin, B.A; Nelson, D; Silver, I.A; Erecinska, M; Chesselet, M.-F (1998). "Methylmalonate toxicity in primary neuronal cultures". Neuroscience. 86 (1): 279–290. doi:10.1016/S0306-4522(97)00594-0. PMID 9692761. S2CID 28386770.
Kölker, S.; Ahlmeyer, B.; Krieglstein, J.; Hoffmann, G. F. (2000). "Methylmalonic acid induces excitotoxic neuronal damage in vitro". Journal of Inherited Metabolic Disease. 23 (4): 355–358. doi:10.1023/A:1005631230455. PMID 10896293. S2CID 10374239.
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. 9 (4): e1621. doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC 8123733. PMID 33625768.
Martini, Paolo G.V.; Guey, Lin T. (2019). "A New Era for Rare Genetic Diseases: Messenger RNA Therapy". Human Gene Therapy. 30 (10): 1180–1189. doi:10.1089/hum.2019.090. ISSN 1043-0342. PMID 31179759. S2CID 182947527.
Brown, G. K.; Scholem, R. D.; Bankier, A.; Danks, D. M. (1984). "Malonyl coenzyme a decarboxylase deficiency". Journal of Inherited Metabolic Disease. 7 (1): 21–26. doi:10.1007/BF01805615. ISSN 0141-8955. PMID 6145813. S2CID 33045087.
Ozand, P.T.; Nyhan, W.L.; Al Aqeel, A.; Christodoulou, J. (1994). "Malonic aciduria". Brain and Development. 16: 7–11. doi:10.1016/0387-7604(94)90091-4. PMID 7537025. S2CID 4768844.

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 (eds.), "A New Approach for Fast Metabolic Diagnostics in CMAMMA", JIMD Reports, Volume 30, vol. 30, Berlin, Heidelberg: Springer Berlin Heidelberg, pp. 15–22, 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; O'Brien, Kevin; Hauser, Natalie S (2011). "Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria". Nature Genetics. 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.
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. 286 (39): 33729–33736. doi:10.1074/jbc.M111.291591. PMC 3190830. PMID 21846720.
Lee, Joon Kee; Oh, Arum (2023). "Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report". Journal of Korean Medical Science. 38 (45): e387. doi:10.3346/jkms.2023.38.e387. ISSN 1011-8934. PMC 10659923. PMID 37987109.
Bowman, Caitlyn E.; Wolfgang, Michael J. (2019). "Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism". Advances in Biological Regulation. 71: 34–40. doi:10.1016/j.jbior.2018.09.002. PMC 6347522. PMID 30201289.
Bowman, Caitlyn E.; Rodriguez, Susana; Selen Alpergin, Ebru S.; Acoba, Michelle G.; Zhao, Liang; Hartung, Thomas; Claypool, Steven M.; Watkins, Paul A.; Wolfgang, Michael J. (2017). "The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency". Cell Chemical Biology. 24 (6): 673–684.e4. doi:10.1016/j.chembiol.2017.04.009. ISSN 2451-9456. PMC 5482780. PMID 28479296.
Tucci, Sara (2020). "Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria". Orphanet Journal of Rare Diseases. 15 (1): 27. doi:10.1186/s13023-020-1299-7. ISSN 1750-1172. PMC 6977288. PMID 31969167.
Scharinger, Marwa; Kuntz, Marcel; Scharinger, Andreas; Teipel, Jan; Kuballa, Thomas; Walch, Stephan G.; Lachenmeier, Dirk W. (2021-03-03). "Rapid Approach to Determine Propionic and Sorbic Acid Contents in Bread and Bakery Products Using 1H NMR Spectroscopy". Foods. 10 (3): 526. doi:10.3390/foods10030526. ISSN 2304-8158. PMC 7998730. PMID 33802459.
Yamamura, T; Okamoto, Y; Okada, G; Takaishi, Y; Takamura, M; Mantani, A; Kurata, A; Otagaki, Y; Yamashita, H; Yamawaki, S (2016). "Association of thalamic hyperactivity with treatment-resistant depression and poor response in early treatment for major depression: a resting-state fMRI study using fractional amplitude of low-frequency fluctuations". Translational Psychiatry. 6 (3): e754. doi:10.1038/tp.2016.18. ISSN 2158-3188. PMC 4872444. PMID 26954981.
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. 9 (4): e1621. doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC 8123733. PMID 33625768.
"Combined malonic and methylmalonic acidemia". National Library of Medicine. Retrieved 2024-04-20.

omim.org

"COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA". OMIM. Retrieved 2024-04-20.

quebec.ca

"Blood and Urine Screening in Newborns". www.quebec.ca. Archived from the original on 2022-05-23. Retrieved 2022-06-15.

semanticscholar.org

api.semanticscholar.org

Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray-Blais, Christiane; Clarke, Joe T.R.; Laframboise, Rachel; Maranda, Bruno; Mitchell, Grant A.; Brunel-Guitton, Catherine; Braverman, Nancy E. (2019). "Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort". Journal of Inherited Metabolic Disease. 42 (1): 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955. PMID 30740739. S2CID 73436689.
Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute; Tucci, Sara (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. 1864 (11): 1629–1643. doi:10.1016/j.bbalip.2019.07.012. PMID 31376476. S2CID 199404906.
Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N.; Ha, K. C. H.; Majewski, J.; Rosenblatt, D. S.; Braverman, N. (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. 48 (9): 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593. PMID 21785126. S2CID 19352176.
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. 21 (4): 382–390. doi:10.1023/A:1005302607897. PMID 9700595. S2CID 20212973.
McLaughlin, B.A; Nelson, D; Silver, I.A; Erecinska, M; Chesselet, M.-F (1998). "Methylmalonate toxicity in primary neuronal cultures". Neuroscience. 86 (1): 279–290. doi:10.1016/S0306-4522(97)00594-0. PMID 9692761. S2CID 28386770.
Kölker, S.; Ahlmeyer, B.; Krieglstein, J.; Hoffmann, G. F. (2000). "Methylmalonic acid induces excitotoxic neuronal damage in vitro". Journal of Inherited Metabolic Disease. 23 (4): 355–358. doi:10.1023/A:1005631230455. PMID 10896293. S2CID 10374239.
Martini, Paolo G.V.; Guey, Lin T. (2019). "A New Era for Rare Genetic Diseases: Messenger RNA Therapy". Human Gene Therapy. 30 (10): 1180–1189. doi:10.1089/hum.2019.090. ISSN 1043-0342. PMID 31179759. S2CID 182947527.
Brown, G. K.; Scholem, R. D.; Bankier, A.; Danks, D. M. (1984). "Malonyl coenzyme a decarboxylase deficiency". Journal of Inherited Metabolic Disease. 7 (1): 21–26. doi:10.1007/BF01805615. ISSN 0141-8955. PMID 6145813. S2CID 33045087.
Ozand, P.T.; Nyhan, W.L.; Al Aqeel, A.; Christodoulou, J. (1994). "Malonic aciduria". Brain and Development. 16: 7–11. doi:10.1016/0387-7604(94)90091-4. PMID 7537025. S2CID 4768844.

urn.fi

Monteuuis, Geoffray; Suomi, Fumi; Kerätär, Juha M.; Masud, Ali J.; Kastaniotis, Alexander J. (2017-11-06). "A conserved mammalian mitochondrial isoform of acetyl-CoA carboxylase ACC1 provides the malonyl-CoA essential for mitochondrial biogenesis in tandem with ACSF3". Biochemical Journal. 474 (22): 3783–3797. doi:10.1042/bcj20170416. PMID 28986507.

web.archive.org

"Blood and Urine Screening in Newborns". www.quebec.ca. Archived from the original on 2022-05-23. Retrieved 2022-06-15.

wiley.com

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. 21 (4): 382–390. doi:10.1023/A:1005302607897. PMID 9700595. S2CID 20212973.
Kölker, S.; Ahlmeyer, B.; Krieglstein, J.; Hoffmann, G. F. (2000). "Methylmalonic acid induces excitotoxic neuronal damage in vitro". Journal of Inherited Metabolic Disease. 23 (4): 355–358. doi:10.1023/A:1005631230455. PMID 10896293. S2CID 10374239.
Brown, G. K.; Scholem, R. D.; Bankier, A.; Danks, D. M. (1984). "Malonyl coenzyme a decarboxylase deficiency". Journal of Inherited Metabolic Disease. 7 (1): 21–26. doi:10.1007/BF01805615. ISSN 0141-8955. PMID 6145813. S2CID 33045087.

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.; Brunel-Guitton, Catherine; Braverman, Nancy E. (2019). "Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort". Journal of Inherited Metabolic Disease. 42 (1): 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955. PMID 30740739. S2CID 73436689.
Mayr, Johannes A.; Feichtinger, René G.; Tort, Frederic; Ribes, Antonia; Sperl, Wolfgang (2014). "Lipoic acid biosynthesis defects". Journal of Inherited Metabolic Disease. 37 (4): 553–563. doi:10.1007/s10545-014-9705-8. ISSN 0141-8955. PMID 24777537.

worldcat.org

search.worldcat.org

Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray-Blais, Christiane; Clarke, Joe T.R.; Laframboise, Rachel; Maranda, Bruno; Mitchell, Grant A.; Brunel-Guitton, Catherine; Braverman, Nancy E. (2019). "Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort". Journal of Inherited Metabolic Disease. 42 (1): 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955. PMID 30740739. S2CID 73436689.
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; O'Brien, Kevin; Hauser, Natalie S (2011). "Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria". Nature Genetics. 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.; Braverman, N. (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. 48 (9): 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593. PMID 21785126. S2CID 19352176.
Lee, Joon Kee; Oh, Arum (2023). "Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report". Journal of Korean Medical Science. 38 (45): e387. doi:10.3346/jkms.2023.38.e387. ISSN 1011-8934. PMC 10659923. PMID 37987109.
Bowman, Caitlyn E.; Rodriguez, Susana; Selen Alpergin, Ebru S.; Acoba, Michelle G.; Zhao, Liang; Hartung, Thomas; Claypool, Steven M.; Watkins, Paul A.; Wolfgang, Michael J. (2017). "The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency". Cell Chemical Biology. 24 (6): 673–684.e4. doi:10.1016/j.chembiol.2017.04.009. ISSN 2451-9456. PMC 5482780. PMID 28479296.
Tucci, Sara (2020). "Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria". Orphanet Journal of Rare Diseases. 15 (1): 27. doi:10.1186/s13023-020-1299-7. ISSN 1750-1172. PMC 6977288. PMID 31969167.
Mayr, Johannes A.; Feichtinger, René G.; Tort, Frederic; Ribes, Antonia; Sperl, Wolfgang (2014). "Lipoic acid biosynthesis defects". Journal of Inherited Metabolic Disease. 37 (4): 553–563. doi:10.1007/s10545-014-9705-8. ISSN 0141-8955. PMID 24777537.
Scharinger, Marwa; Kuntz, Marcel; Scharinger, Andreas; Teipel, Jan; Kuballa, Thomas; Walch, Stephan G.; Lachenmeier, Dirk W. (2021-03-03). "Rapid Approach to Determine Propionic and Sorbic Acid Contents in Bread and Bakery Products Using 1H NMR Spectroscopy". Foods. 10 (3): 526. doi:10.3390/foods10030526. ISSN 2304-8158. PMC 7998730. PMID 33802459.
Yamamura, T; Okamoto, Y; Okada, G; Takaishi, Y; Takamura, M; Mantani, A; Kurata, A; Otagaki, Y; Yamashita, H; Yamawaki, S (2016). "Association of thalamic hyperactivity with treatment-resistant depression and poor response in early treatment for major depression: a resting-state fMRI study using fractional amplitude of low-frequency fluctuations". Translational Psychiatry. 6 (3): e754. doi:10.1038/tp.2016.18. ISSN 2158-3188. PMC 4872444. PMID 26954981.
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. 9 (4): e1621. doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC 8123733. PMID 33625768.
Martini, Paolo G.V.; Guey, Lin T. (2019). "A New Era for Rare Genetic Diseases: Messenger RNA Therapy". Human Gene Therapy. 30 (10): 1180–1189. doi:10.1089/hum.2019.090. ISSN 1043-0342. PMID 31179759. S2CID 182947527.
Brown, G. K.; Scholem, R. D.; Bankier, A.; Danks, D. M. (1984). "Malonyl coenzyme a decarboxylase deficiency". Journal of Inherited Metabolic Disease. 7 (1): 21–26. doi:10.1007/BF01805615. ISSN 0141-8955. PMID 6145813. S2CID 33045087.