Acidúria malônica e metilmalônica combinada (Portuguese Wikipedia)

Analysis of information sources in references of the Wikipedia article "Acidúria malônica e metilmalônica combinada" in Portuguese language version.

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23doi.org

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13nih.gov

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13worldcat.org

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8elsevier.com

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6wiley.com

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2nature.com

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1springer.com

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1frontiersin.org

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1bmj.com

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1jkms.org

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1biomedcentral.com

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1portlandpress.com

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1mdpi.com

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1quebec.ca

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1web.archive.org

1^st place

1mayocliniclabs.com

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1omim.org

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biomedcentral.com

ojrd.biomedcentral.com

Tucci, Sara (dezembro de 2020). «Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria». Orphanet Journal of Rare Diseases (em inglês) (1). ISSN 1750-1172. doi:10.1186/s13023-020-1299-7

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 de setembro de 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 (em inglês) (9): 602–605. ISSN 0022-2593. doi:10.1136/jmedgenet-2011-100230

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, eds. «A New Approach for Fast Metabolic Diagnostics in CMAMMA». Berlin, Heidelberg: Springer Berlin Heidelberg (em inglês): 15–22. ISBN 978-3-662-53680-3. PMC 5110436. PMID 26915364. doi:10.1007/8904_2016_531
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 (em inglês). 42 (1): 107–116. ISSN 0141-8955. PMID 30740739. doi:10.1002/jimd.12032
Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute; Tucci, Sara (novembro de 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 (em inglês) (11): 1629–1643. doi:10.1016/j.bbalip.2019.07.012
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 (setembro de 2011). «Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria». Nature Genetics (em inglês) (9): 883–886. ISSN 1061-4036. PMC 3163731. PMID 21841779. doi:10.1038/ng.908
Sniderman, Lisa C.; Lambert, Marie; Giguère, Robert; Auray-Blais, Christiane; Lemieux, Bernard; Laframboise, Rachel; Rosenblatt, David S.; Treacy, Eileen P. (junho de 1999). «Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program». The Journal of Pediatrics (em inglês) (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 (25 de novembro de 2021). «Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients». Frontiers in Pediatrics. 751895 páginas. ISSN 2296-2360. PMC 8658908. PMID 34900860. doi:10.3389/fped.2021.751895
Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N.; Ha, K. C. H.; Majewski, J.; Rosenblatt, D. S. (1 de setembro de 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 (em inglês) (9): 602–605. ISSN 0022-2593. doi:10.1136/jmedgenet-2011-100230
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 (em inglês). 21 (4): 382–390. PMID 9700595. doi:10.1023/A:1005302607897
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (setembro de 2011). «Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis». Journal of Biological Chemistry (em inglês) (39): 33729–33736. PMC 3190830. PMID 21846720. doi:10.1074/jbc.M111.291591
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 (em inglês) (45). ISSN 1011-8934. PMC 10659923 Verifique |pmc= (ajuda). PMID 37987109 Verifique |pmid= (ajuda). doi:10.3346/jkms.2023.38.e387
Bowman, Caitlyn E.; Wolfgang, Michael J. (janeiro de 2019). «Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism». Advances in Biological Regulation (em inglês): 34–40. PMC 6347522. PMID 30201289. doi:10.1016/j.jbior.2018.09.002
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. (junho de 2017). «The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency». Cell Chemical Biology (em inglês) (6): 673–684.e4. PMC 5482780. PMID 28479296. doi:10.1016/j.chembiol.2017.04.009
Tucci, Sara (dezembro de 2020). «Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria». Orphanet Journal of Rare Diseases (em inglês) (1). ISSN 1750-1172. doi:10.1186/s13023-020-1299-7
Mayr, Johannes A.; Feichtinger, René G.; Tort, Frederic; Ribes, Antonia; Sperl, Wolfgang (julho de 2014). «Lipoic acid biosynthesis defects». Journal of Inherited Metabolic Disease (em inglês) (4): 553–563. ISSN 0141-8955. doi:10.1007/s10545-014-9705-8
Monteuuis, Geoffray; Suomi, Fumi; Kerätär, Juha M.; Masud, Ali J.; Kastaniotis, Alexander J. (15 de novembro de 2017). «A conserved mammalian mitochondrial isoform of acetyl-CoA carboxylase ACC1 provides the malonyl-CoA essential for mitochondrial biogenesis in tandem with ACSF3». Biochemical Journal (em inglês) (22): 3783–3797. ISSN 0264-6021. doi:10.1042/BCJ20170416
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. (novembro de 1990). «Sources of propionate in inborn errors of propionate metabolism». Metabolism (em inglês) (11): 1133–1137. doi:10.1016/0026-0495(90)90084-P
Scharinger, Marwa; Kuntz, Marcel; Scharinger, Andreas; Teipel, Jan; Kuballa, Thomas; Walch, Stephan G.; Lachenmeier, Dirk W. (3 de março de 2021). «Rapid Approach to Determine Propionic and Sorbic Acid Contents in Bread and Bakery Products Using 1H NMR Spectroscopy». Foods (em inglês) (3). 526 páginas. ISSN 2304-8158. PMC 7998730. PMID 33802459. doi:10.3390/foods10030526
Yamamura, T; Okamoto, Y; Okada, G; Takaishi, Y; Takamura, M; Mantani, A; Kurata, A; Otagaki, Y; Yamashita, H (8 de março de 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 (em inglês) (3): e754–e754. ISSN 2158-3188. PMC 4872444. PMID 26954981. doi:10.1038/tp.2016.18
McLaughlin, B.A; Nelson, D; Silver, I.A; Erecinska, M; Chesselet, M.-F (maio de 1998). «Methylmalonate toxicity in primary neuronal cultures». Neuroscience (em inglês) (1): 279–290. doi:10.1016/S0306-4522(97)00594-0
Kölker, S.; Ahlmeyer, B.; Krieglstein, J.; Hoffmann, G. F. (junho de 2000). «Methylmalonic acid induces excitotoxic neuronal damage in vitro». Journal of Inherited Metabolic Disease (em inglês) (4): 355–358. ISSN 0141-8955. doi:10.1023/A:1005631230455
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. (abril de 2021). «Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria». Molecular Genetics & Genomic Medicine (em inglês) (4). ISSN 2324-9269. PMC 8123733. PMID 33625768. doi:10.1002/mgg3.1621
Brown, G. K.; Scholem, R. D.; Bankier, A.; Danks, D. M. (março de 1984). «Malonyl coenzyme a decarboxylase deficiency». Journal of Inherited Metabolic Disease (em inglês) (1): 21–26. ISSN 0141-8955. doi:10.1007/BF01805615
Ozand, P.T.; Nyhan, W.L.; Al Aqeel, A.; Christodoulou, J. (novembro de 1994). «Malonic aciduria». Brain and Development (em inglês): 7–11. doi:10.1016/0387-7604(94)90091-4

elsevier.com

linkinghub.elsevier.com

Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute; Tucci, Sara (novembro de 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 (em inglês) (11): 1629–1643. doi:10.1016/j.bbalip.2019.07.012
Sniderman, Lisa C.; Lambert, Marie; Giguère, Robert; Auray-Blais, Christiane; Lemieux, Bernard; Laframboise, Rachel; Rosenblatt, David S.; Treacy, Eileen P. (junho de 1999). «Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program». The Journal of Pediatrics (em inglês) (6): 675–680. doi:10.1016/S0022-3476(99)70280-5
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (setembro de 2011). «Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis». Journal of Biological Chemistry (em inglês) (39): 33729–33736. PMC 3190830. PMID 21846720. doi:10.1074/jbc.M111.291591
Bowman, Caitlyn E.; Wolfgang, Michael J. (janeiro de 2019). «Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism». Advances in Biological Regulation (em inglês): 34–40. PMC 6347522. PMID 30201289. doi:10.1016/j.jbior.2018.09.002
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. (junho de 2017). «The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency». Cell Chemical Biology (em inglês) (6): 673–684.e4. PMC 5482780. PMID 28479296. doi:10.1016/j.chembiol.2017.04.009
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. (novembro de 1990). «Sources of propionate in inborn errors of propionate metabolism». Metabolism (em inglês) (11): 1133–1137. doi:10.1016/0026-0495(90)90084-P
McLaughlin, B.A; Nelson, D; Silver, I.A; Erecinska, M; Chesselet, M.-F (maio de 1998). «Methylmalonate toxicity in primary neuronal cultures». Neuroscience (em inglês) (1): 279–290. doi:10.1016/S0306-4522(97)00594-0
Ozand, P.T.; Nyhan, W.L.; Al Aqeel, A.; Christodoulou, J. (novembro de 1994). «Malonic aciduria». Brain and Development (em inglês): 7–11. doi:10.1016/0387-7604(94)90091-4

frontiersin.org

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

jkms.org

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 (em inglês) (45). ISSN 1011-8934. PMC 10659923 Verifique |pmc= (ajuda). PMID 37987109 Verifique |pmid= (ajuda). doi:10.3346/jkms.2023.38.e387

mayocliniclabs.com

«Targeted Genes and Methodology Details for Methylmalonic Aciduria Gene Panel». Mayo Clinic Laboratories. Consultado em 16 de maio de 2024

mdpi.com

Scharinger, Marwa; Kuntz, Marcel; Scharinger, Andreas; Teipel, Jan; Kuballa, Thomas; Walch, Stephan G.; Lachenmeier, Dirk W. (3 de março de 2021). «Rapid Approach to Determine Propionic and Sorbic Acid Contents in Bread and Bakery Products Using 1H NMR Spectroscopy». Foods (em inglês) (3). 526 páginas. ISSN 2304-8158. PMC 7998730. PMID 33802459. doi:10.3390/foods10030526

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 (setembro de 2011). «Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria». Nature Genetics (em inglês) (9): 883–886. ISSN 1061-4036. PMC 3163731. PMID 21841779. doi:10.1038/ng.908
Yamamura, T; Okamoto, Y; Okada, G; Takaishi, Y; Takamura, M; Mantani, A; Kurata, A; Otagaki, Y; Yamashita, H (8 de março de 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 (em inglês) (3): e754–e754. ISSN 2158-3188. PMC 4872444. PMID 26954981. doi:10.1038/tp.2016.18

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, eds. «A New Approach for Fast Metabolic Diagnostics in CMAMMA». Berlin, Heidelberg: Springer Berlin Heidelberg (em inglês): 15–22. ISBN 978-3-662-53680-3. PMC 5110436. PMID 26915364. doi:10.1007/8904_2016_531
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 (em inglês). 42 (1): 107–116. ISSN 0141-8955. PMID 30740739. doi:10.1002/jimd.12032
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 (setembro de 2011). «Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria». Nature Genetics (em inglês) (9): 883–886. ISSN 1061-4036. PMC 3163731. PMID 21841779. doi:10.1038/ng.908
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (25 de novembro de 2021). «Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients». Frontiers in Pediatrics. 751895 páginas. ISSN 2296-2360. PMC 8658908. PMID 34900860. doi:10.3389/fped.2021.751895
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 (em inglês). 21 (4): 382–390. PMID 9700595. doi:10.1023/A:1005302607897
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (setembro de 2011). «Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis». Journal of Biological Chemistry (em inglês) (39): 33729–33736. PMC 3190830. PMID 21846720. doi:10.1074/jbc.M111.291591
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 (em inglês) (45). ISSN 1011-8934. PMC 10659923 Verifique |pmc= (ajuda). PMID 37987109 Verifique |pmid= (ajuda). doi:10.3346/jkms.2023.38.e387
Bowman, Caitlyn E.; Wolfgang, Michael J. (janeiro de 2019). «Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism». Advances in Biological Regulation (em inglês): 34–40. PMC 6347522. PMID 30201289. doi:10.1016/j.jbior.2018.09.002
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. (junho de 2017). «The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency». Cell Chemical Biology (em inglês) (6): 673–684.e4. PMC 5482780. PMID 28479296. doi:10.1016/j.chembiol.2017.04.009
Scharinger, Marwa; Kuntz, Marcel; Scharinger, Andreas; Teipel, Jan; Kuballa, Thomas; Walch, Stephan G.; Lachenmeier, Dirk W. (3 de março de 2021). «Rapid Approach to Determine Propionic and Sorbic Acid Contents in Bread and Bakery Products Using 1H NMR Spectroscopy». Foods (em inglês) (3). 526 páginas. ISSN 2304-8158. PMC 7998730. PMID 33802459. doi:10.3390/foods10030526
Yamamura, T; Okamoto, Y; Okada, G; Takaishi, Y; Takamura, M; Mantani, A; Kurata, A; Otagaki, Y; Yamashita, H (8 de março de 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 (em inglês) (3): e754–e754. ISSN 2158-3188. PMC 4872444. PMID 26954981. doi:10.1038/tp.2016.18
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. (abril de 2021). «Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria». Molecular Genetics & Genomic Medicine (em inglês) (4). ISSN 2324-9269. PMC 8123733. PMID 33625768. doi:10.1002/mgg3.1621
«Combined malonic and methylmalonic acidemia». www.ncbi.nlm.nih.gov. Consultado em 20 de abril de 2024

omim.org

«COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA». omim.org. Consultado em 20 de abril de 2024

portlandpress.com

Monteuuis, Geoffray; Suomi, Fumi; Kerätär, Juha M.; Masud, Ali J.; Kastaniotis, Alexander J. (15 de novembro de 2017). «A conserved mammalian mitochondrial isoform of acetyl-CoA carboxylase ACC1 provides the malonyl-CoA essential for mitochondrial biogenesis in tandem with ACSF3». Biochemical Journal (em inglês) (22): 3783–3797. ISSN 0264-6021. doi:10.1042/BCJ20170416

quebec.ca

«Blood and Urine Screening in Newborns». www.quebec.ca. Cópia arquivada em 23 de maio de 2024

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, eds. «A New Approach for Fast Metabolic Diagnostics in CMAMMA». Berlin, Heidelberg: Springer Berlin Heidelberg (em inglês): 15–22. ISBN 978-3-662-53680-3. PMC 5110436. PMID 26915364. doi:10.1007/8904_2016_531

web.archive.org

«Blood and Urine Screening in Newborns». www.quebec.ca. Cópia arquivada em 23 de maio de 2024

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 (em inglês). 42 (1): 107–116. ISSN 0141-8955. PMID 30740739. doi:10.1002/jimd.12032
Mayr, Johannes A.; Feichtinger, René G.; Tort, Frederic; Ribes, Antonia; Sperl, Wolfgang (julho de 2014). «Lipoic acid biosynthesis defects». Journal of Inherited Metabolic Disease (em inglês) (4): 553–563. ISSN 0141-8955. doi:10.1007/s10545-014-9705-8
Kölker, S.; Ahlmeyer, B.; Krieglstein, J.; Hoffmann, G. F. (junho de 2000). «Methylmalonic acid induces excitotoxic neuronal damage in vitro». Journal of Inherited Metabolic Disease (em inglês) (4): 355–358. ISSN 0141-8955. doi:10.1023/A:1005631230455
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. (abril de 2021). «Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria». Molecular Genetics & Genomic Medicine (em inglês) (4). ISSN 2324-9269. PMC 8123733. PMID 33625768. doi:10.1002/mgg3.1621
Brown, G. K.; Scholem, R. D.; Bankier, A.; Danks, D. M. (março de 1984). «Malonyl coenzyme a decarboxylase deficiency». Journal of Inherited Metabolic Disease (em inglês) (1): 21–26. ISSN 0141-8955. doi:10.1007/BF01805615

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 (em inglês). 21 (4): 382–390. PMID 9700595. doi:10.1023/A:1005302607897

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. (2019). «Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort». Journal of Inherited Metabolic Disease (em inglês). 42 (1): 107–116. ISSN 0141-8955. PMID 30740739. doi:10.1002/jimd.12032
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 (setembro de 2011). «Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria». Nature Genetics (em inglês) (9): 883–886. ISSN 1061-4036. PMC 3163731. PMID 21841779. doi:10.1038/ng.908
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (25 de novembro de 2021). «Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients». Frontiers in Pediatrics. 751895 páginas. ISSN 2296-2360. PMC 8658908. PMID 34900860. doi:10.3389/fped.2021.751895
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