Aciduria malonică și metilmalonică combinată (Romanian Wikipedia)
Analysis of information sources in references of the Wikipedia article "Aciduria malonică și metilmalonică combinată" in Romanian language version.
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- Tucci, Sara (2020-12), „Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria”, Orphanet Journal of Rare Diseases (în engleză), 15 (1), doi:10.1186/s13023-020-1299-7, ISSN 1750-1172, PMC 6977288
, PMID 31969167 Verificați datele pentru: |date=(ajutor)
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. (), „Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype”, Journal of Medical Genetics (în engleză), 48 (9), pp. 602–605, doi:10.1136/jmedgenet-2011-100230, ISSN 0022-2593
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. (), Morava, Eva; Baumgartner, Matthias; Patterson, Marc; Rahman, Shamima, ed., „A New Approach for Fast Metabolic Diagnostics in CMAMMA”, JIMD Reports, Volume 30, Springer Berlin Heidelberg, 30, 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. (2019-01), „Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort”, Journal of Inherited Metabolic Disease (în engleză), 42 (1), pp. 107–116, doi:10.1002/jimd.12032, ISSN 0141-8955 Verificați datele pentru:
|date=(ajutor) - Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute; Tucci, Sara (2019-11), „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 (în engleză), 1864 (11), pp. 1629–1643, doi:10.1016/j.bbalip.2019.07.012 Verificați datele pentru:
|date=(ajutor) - 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 (2011-09), „Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria”, Nature Genetics (în engleză), 43 (9), pp. 883–886, doi:10.1038/ng.908, ISSN 1061-4036, PMC 3163731 , PMID 21841779 Verificați datele pentru:
|date=(ajutor) - Sniderman, Lisa C.; Lambert, Marie; Giguère, Robert; Auray-Blais, Christiane; Lemieux, Bernard; Laframboise, Rachel; Rosenblatt, David S.; Treacy, Eileen P. (1999-06), „Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program”, The Journal of Pediatrics (în engleză), 134 (6), pp. 675–680, doi:10.1016/S0022-3476(99)70280-5 Verificați datele pentru:
|date=(ajutor) - Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (), „Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients”, Frontiers in Pediatrics, 9, p. 751895, doi:10.3389/fped.2021.751895, ISSN 2296-2360, PMC 8658908 , PMID 34900860 Verificați valoarea
|pmid=(ajutor) - Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N.; Ha, K. C. H.; Majewski, J.; Rosenblatt, D. S. (), „Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype”, Journal of Medical Genetics (în engleză), 48 (9), pp. 602–605, doi:10.1136/jmedgenet-2011-100230, ISSN 0022-2593
- 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”, Journal of Inherited Metabolic Disease (în engleză), 21 (4), pp. 382–390, doi:10.1023/A:1005302607897 Verificați datele pentru:
|date=(ajutor) - 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”, Journal of Biological Chemistry (în engleză), 286 (39), pp. 33729–33736, doi:10.1074/jbc.M111.291591, PMC 3190830 , PMID 21846720 Verificați datele pentru:
|date=(ajutor) - Lee, Joon Kee; Oh, Arum (), „Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report”, Journal of Korean Medical Science (în engleză), 38 (45), doi:10.3346/jkms.2023.38.e387, ISSN 1011-8934, PMC 10659923 , PMID 37987109 Verificați valoarea
|pmid=(ajutor) - Bowman, Caitlyn E.; Wolfgang, Michael J. (2019-01), „Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism”, Advances in Biological Regulation (în engleză), 71, pp. 34–40, doi:10.1016/j.jbior.2018.09.002, PMC 6347522 , PMID 30201289 Verificați datele pentru:
|date=(ajutor) - 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. (2017-06), „The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency”, Cell Chemical Biology (în engleză), 24 (6), pp. 673–684.e4, doi:10.1016/j.chembiol.2017.04.009, PMC 5482780 , PMID 28479296 Verificați datele pentru:
|date=(ajutor) - Tucci, Sara (2020-12), „Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria”, Orphanet Journal of Rare Diseases (în engleză), 15 (1), doi:10.1186/s13023-020-1299-7, ISSN 1750-1172, PMC 6977288 , PMID 31969167 Verificați datele pentru:
|date=(ajutor) - Mayr, Johannes A.; Feichtinger, René G.; Tort, Frederic; Ribes, Antonia; Sperl, Wolfgang (2014-07), „Lipoic acid biosynthesis defects”, Journal of Inherited Metabolic Disease (în engleză), 37 (4), pp. 553–563, doi:10.1007/s10545-014-9705-8, ISSN 0141-8955 Verificați datele pentru:
|date=(ajutor) - Monteuuis, Geoffray; Suomi, Fumi; Kerätär, Juha M.; Masud, Ali J.; Kastaniotis, Alexander J. (), „A conserved mammalian mitochondrial isoform of acetyl-CoA carboxylase ACC1 provides the malonyl-CoA essential for mitochondrial biogenesis in tandem with ACSF3”, Biochemical Journal (în engleză), 474 (22), pp. 3783–3797, doi:10.1042/BCJ20170416, ISSN 0264-6021
- 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. (1990-11), „Sources of propionate in inborn errors of propionate metabolism”, Metabolism (în engleză), 39 (11), pp. 1133–1137, doi:10.1016/0026-0495(90)90084-P Verificați datele pentru:
|date=(ajutor) - Scharinger, Marwa; Kuntz, Marcel; Scharinger, Andreas; Teipel, Jan; Kuballa, Thomas; Walch, Stephan G.; Lachenmeier, Dirk W. (), „Rapid Approach to Determine Propionic and Sorbic Acid Contents in Bread and Bakery Products Using 1H NMR Spectroscopy”, Foods (în engleză), 10 (3), p. 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 (), „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 (în engleză), 6 (3), pp. e754–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 (1998-05), „Methylmalonate toxicity in primary neuronal cultures”, Neuroscience (în engleză), 86 (1), pp. 279–290, doi:10.1016/S0306-4522(97)00594-0, accesat în 8 august 2024 Verificați datele pentru:
|date=(ajutor) - Kölker, S.; Ahlmeyer, B.; Krieglstein, J.; Hoffmann, G. F. (2000-06), „Methylmalonic acid induces excitotoxic neuronal damage in vitro”, Journal of Inherited Metabolic Disease (în engleză), 23 (4), pp. 355–358, doi:10.1023/A:1005631230455, ISSN 0141-8955 Verificați datele pentru:
|date=(ajutor) - 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”, Molecular Genetics & Genomic Medicine (în engleză), 9 (4), doi:10.1002/mgg3.1621, ISSN 2324-9269, PMC 8123733 , PMID 33625768 Verificați datele pentru:
|date=(ajutor) - Brown, G. K.; Scholem, R. D.; Bankier, A.; Danks, D. M. (1984-03), „Malonyl coenzyme a decarboxylase deficiency”, Journal of Inherited Metabolic Disease (în engleză), 7 (1), pp. 21–26, doi:10.1007/BF01805615, ISSN 0141-8955 Verificați datele pentru:
|date=(ajutor) - Ozand, P.T.; Nyhan, W.L.; Al Aqeel, A.; Christodoulou, J. (1994-11), „Malonic aciduria”, Brain and Development (în engleză), 16, pp. 7–11, doi:10.1016/0387-7604(94)90091-4 Verificați datele pentru:
|date=(ajutor)
elsevier.com
linkinghub.elsevier.com
- Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute; Tucci, Sara (2019-11), „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 (în engleză), 1864 (11), pp. 1629–1643, doi:10.1016/j.bbalip.2019.07.012 Verificați datele pentru:
|date=(ajutor) - Sniderman, Lisa C.; Lambert, Marie; Giguère, Robert; Auray-Blais, Christiane; Lemieux, Bernard; Laframboise, Rachel; Rosenblatt, David S.; Treacy, Eileen P. (1999-06), „Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program”, The Journal of Pediatrics (în engleză), 134 (6), pp. 675–680, doi:10.1016/S0022-3476(99)70280-5 Verificați datele pentru:
|date=(ajutor) - 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”, Journal of Biological Chemistry (în engleză), 286 (39), pp. 33729–33736, doi:10.1074/jbc.M111.291591, PMC 3190830 , PMID 21846720 Verificați datele pentru:
|date=(ajutor) - Bowman, Caitlyn E.; Wolfgang, Michael J. (2019-01), „Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism”, Advances in Biological Regulation (în engleză), 71, pp. 34–40, doi:10.1016/j.jbior.2018.09.002, PMC 6347522 , PMID 30201289 Verificați datele pentru:
|date=(ajutor) - 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. (2017-06), „The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency”, Cell Chemical Biology (în engleză), 24 (6), pp. 673–684.e4, doi:10.1016/j.chembiol.2017.04.009, PMC 5482780 , PMID 28479296 Verificați datele pentru:
|date=(ajutor) - 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. (1990-11), „Sources of propionate in inborn errors of propionate metabolism”, Metabolism (în engleză), 39 (11), pp. 1133–1137, doi:10.1016/0026-0495(90)90084-P Verificați datele pentru:
|date=(ajutor) - McLaughlin, B.A; Nelson, D; Silver, I.A; Erecinska, M; Chesselet, M.-F (1998-05), „Methylmalonate toxicity in primary neuronal cultures”, Neuroscience (în engleză), 86 (1), pp. 279–290, doi:10.1016/S0306-4522(97)00594-0, accesat în 8 august 2024 Verificați datele pentru:
|date=(ajutor) - Ozand, P.T.; Nyhan, W.L.; Al Aqeel, A.; Christodoulou, J. (1994-11), „Malonic aciduria”, Brain and Development (în engleză), 16, pp. 7–11, doi:10.1016/0387-7604(94)90091-4 Verificați datele pentru:
|date=(ajutor)
frontiersin.org
- Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (), „Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients”, Frontiers in Pediatrics, 9, p. 751895, doi:10.3389/fped.2021.751895, ISSN 2296-2360, PMC 8658908 , PMID 34900860 Verificați valoarea
|pmid=(ajutor)
jkms.org
- Lee, Joon Kee; Oh, Arum (), „Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report”, Journal of Korean Medical Science (în engleză), 38 (45), doi:10.3346/jkms.2023.38.e387, ISSN 1011-8934, PMC 10659923 , PMID 37987109 Verificați valoarea
|pmid=(ajutor)
mayocliniclabs.com
- „Targeted Genes and Methodology Details for Methylmalonic Aciduria Gene Panel”. Mayo Clinic Laboratories. Accesat în .
mdpi.com
- Scharinger, Marwa; Kuntz, Marcel; Scharinger, Andreas; Teipel, Jan; Kuballa, Thomas; Walch, Stephan G.; Lachenmeier, Dirk W. (), „Rapid Approach to Determine Propionic and Sorbic Acid Contents in Bread and Bakery Products Using 1H NMR Spectroscopy”, Foods (în engleză), 10 (3), p. 526, doi:10.3390/foods10030526, ISSN 2304-8158, PMC 7998730 , PMID 33802459
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 (2011-09), „Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria”, Nature Genetics (în engleză), 43 (9), pp. 883–886, doi:10.1038/ng.908, ISSN 1061-4036, PMC 3163731 , PMID 21841779 Verificați datele pentru:
|date=(ajutor) - Yamamura, T; Okamoto, Y; Okada, G; Takaishi, Y; Takamura, M; Mantani, A; Kurata, A; Otagaki, Y; Yamashita, H (), „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 (în engleză), 6 (3), pp. e754–e754, doi:10.1038/tp.2016.18, ISSN 2158-3188, PMC 4872444 , PMID 26954981
nih.gov
ncbi.nlm.nih.gov
- Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria
- 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. (), Morava, Eva; Baumgartner, Matthias; Patterson, Marc; Rahman, Shamima, ed., „A New Approach for Fast Metabolic Diagnostics in CMAMMA”, JIMD Reports, Volume 30, Springer Berlin Heidelberg, 30, 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 (2011-09), „Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria”, Nature Genetics (în engleză), 43 (9), pp. 883–886, doi:10.1038/ng.908, ISSN 1061-4036, PMC 3163731 , PMID 21841779 Verificați datele pentru:
|date=(ajutor) - Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (), „Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients”, Frontiers in Pediatrics, 9, p. 751895, doi:10.3389/fped.2021.751895, ISSN 2296-2360, PMC 8658908 , PMID 34900860 Verificați valoarea
|pmid=(ajutor) - 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”, Journal of Biological Chemistry (în engleză), 286 (39), pp. 33729–33736, doi:10.1074/jbc.M111.291591, PMC 3190830 , PMID 21846720 Verificați datele pentru:
|date=(ajutor) - Lee, Joon Kee; Oh, Arum (), „Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report”, Journal of Korean Medical Science (în engleză), 38 (45), doi:10.3346/jkms.2023.38.e387, ISSN 1011-8934, PMC 10659923 , PMID 37987109 Verificați valoarea
|pmid=(ajutor) - Bowman, Caitlyn E.; Wolfgang, Michael J. (2019-01), „Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism”, Advances in Biological Regulation (în engleză), 71, pp. 34–40, doi:10.1016/j.jbior.2018.09.002, PMC 6347522 , PMID 30201289 Verificați datele pentru:
|date=(ajutor) - 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. (2017-06), „The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency”, Cell Chemical Biology (în engleză), 24 (6), pp. 673–684.e4, doi:10.1016/j.chembiol.2017.04.009, PMC 5482780 , PMID 28479296 Verificați datele pentru:
|date=(ajutor) - Tucci, Sara (2020-12), „Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria”, Orphanet Journal of Rare Diseases (în engleză), 15 (1), doi:10.1186/s13023-020-1299-7, ISSN 1750-1172, PMC 6977288 , PMID 31969167 Verificați datele pentru:
|date=(ajutor) - Scharinger, Marwa; Kuntz, Marcel; Scharinger, Andreas; Teipel, Jan; Kuballa, Thomas; Walch, Stephan G.; Lachenmeier, Dirk W. (), „Rapid Approach to Determine Propionic and Sorbic Acid Contents in Bread and Bakery Products Using 1H NMR Spectroscopy”, Foods (în engleză), 10 (3), p. 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 (), „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 (în engleză), 6 (3), pp. e754–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. (2021-04), „Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria”, Molecular Genetics & Genomic Medicine (în engleză), 9 (4), doi:10.1002/mgg3.1621, ISSN 2324-9269, PMC 8123733 , PMID 33625768 Verificați datele pentru:
|date=(ajutor) - „Combined malonic and methylmalonic acidemia”. National Library of Medicine. Accesat în .
omim.org
- „COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA”. OMIM. Accesat în .
portlandpress.com
- Monteuuis, Geoffray; Suomi, Fumi; Kerätär, Juha M.; Masud, Ali J.; Kastaniotis, Alexander J. (), „A conserved mammalian mitochondrial isoform of acetyl-CoA carboxylase ACC1 provides the malonyl-CoA essential for mitochondrial biogenesis in tandem with ACSF3”, Biochemical Journal (în engleză), 474 (22), pp. 3783–3797, doi:10.1042/BCJ20170416, ISSN 0264-6021
quebec.ca
- „Blood and Urine Screening in Newborns”. www.quebec.ca. Arhivat din original la . Accesat în .
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. (), Morava, Eva; Baumgartner, Matthias; Patterson, Marc; Rahman, Shamima, ed., „A New Approach for Fast Metabolic Diagnostics in CMAMMA”, JIMD Reports, Volume 30, Springer Berlin Heidelberg, 30, pp. 15–22, doi:10.1007/8904_2016_531, ISBN 978-3-662-53680-3, PMC 5110436 , PMID 26915364
web.archive.org
- „Blood and Urine Screening in Newborns”. www.quebec.ca. Arhivat din original la . Accesat în .
wikidata.org
- Monarch Disease Ontology release 2018-06-29[*] Verificați valoarea
|titlelink=(ajutor);
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. (2019-01), „Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort”, Journal of Inherited Metabolic Disease (în engleză), 42 (1), pp. 107–116, doi:10.1002/jimd.12032, ISSN 0141-8955 Verificați datele pentru:
|date=(ajutor) - Mayr, Johannes A.; Feichtinger, René G.; Tort, Frederic; Ribes, Antonia; Sperl, Wolfgang (2014-07), „Lipoic acid biosynthesis defects”, Journal of Inherited Metabolic Disease (în engleză), 37 (4), pp. 553–563, doi:10.1007/s10545-014-9705-8, ISSN 0141-8955 Verificați datele pentru:
|date=(ajutor) - Kölker, S.; Ahlmeyer, B.; Krieglstein, J.; Hoffmann, G. F. (2000-06), „Methylmalonic acid induces excitotoxic neuronal damage in vitro”, Journal of Inherited Metabolic Disease (în engleză), 23 (4), pp. 355–358, doi:10.1023/A:1005631230455, ISSN 0141-8955 Verificați datele pentru:
|date=(ajutor) - 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”, Molecular Genetics & Genomic Medicine (în engleză), 9 (4), doi:10.1002/mgg3.1621, ISSN 2324-9269, PMC 8123733 , PMID 33625768 Verificați datele pentru:
|date=(ajutor) - Brown, G. K.; Scholem, R. D.; Bankier, A.; Danks, D. M. (1984-03), „Malonyl coenzyme a decarboxylase deficiency”, Journal of Inherited Metabolic Disease (în engleză), 7 (1), pp. 21–26, doi:10.1007/BF01805615, ISSN 0141-8955 Verificați datele pentru:
|date=(ajutor)
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”, Journal of Inherited Metabolic Disease (în engleză), 21 (4), pp. 382–390, doi:10.1023/A:1005302607897 Verificați datele pentru:
|date=(ajutor)
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. (2019-01), „Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort”, Journal of Inherited Metabolic Disease (în engleză), 42 (1), pp. 107–116, doi:10.1002/jimd.12032, ISSN 0141-8955 Verificați datele pentru:
|date=(ajutor) - 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 (2011-09), „Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria”, Nature Genetics (în engleză), 43 (9), pp. 883–886, doi:10.1038/ng.908, ISSN 1061-4036, PMC 3163731 , PMID 21841779 Verificați datele pentru:
|date=(ajutor) - Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (), „Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients”, Frontiers in Pediatrics, 9, p. 751895, doi:10.3389/fped.2021.751895, ISSN 2296-2360, PMC 8658908 , PMID 34900860 Verificați valoarea
|pmid=(ajutor) - Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N.; Ha, K. C. H.; Majewski, J.; Rosenblatt, D. S. (), „Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype”, Journal of Medical Genetics (în engleză), 48 (9), pp. 602–605, doi:10.1136/jmedgenet-2011-100230, ISSN 0022-2593
- Lee, Joon Kee; Oh, Arum (), „Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report”, Journal of Korean Medical Science (în engleză), 38 (45), doi:10.3346/jkms.2023.38.e387, ISSN 1011-8934, PMC 10659923 , PMID 37987109 Verificați valoarea
|pmid=(ajutor) - Tucci, Sara (2020-12), „Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria”, Orphanet Journal of Rare Diseases (în engleză), 15 (1), doi:10.1186/s13023-020-1299-7, ISSN 1750-1172, PMC 6977288 , PMID 31969167 Verificați datele pentru:
|date=(ajutor) - Mayr, Johannes A.; Feichtinger, René G.; Tort, Frederic; Ribes, Antonia; Sperl, Wolfgang (2014-07), „Lipoic acid biosynthesis defects”, Journal of Inherited Metabolic Disease (în engleză), 37 (4), pp. 553–563, doi:10.1007/s10545-014-9705-8, ISSN 0141-8955 Verificați datele pentru:
|date=(ajutor) - Monteuuis, Geoffray; Suomi, Fumi; Kerätär, Juha M.; Masud, Ali J.; Kastaniotis, Alexander J. (), „A conserved mammalian mitochondrial isoform of acetyl-CoA carboxylase ACC1 provides the malonyl-CoA essential for mitochondrial biogenesis in tandem with ACSF3”, Biochemical Journal (în engleză), 474 (22), pp. 3783–3797, doi:10.1042/BCJ20170416, ISSN 0264-6021
- Scharinger, Marwa; Kuntz, Marcel; Scharinger, Andreas; Teipel, Jan; Kuballa, Thomas; Walch, Stephan G.; Lachenmeier, Dirk W. (), „Rapid Approach to Determine Propionic and Sorbic Acid Contents in Bread and Bakery Products Using 1H NMR Spectroscopy”, Foods (în engleză), 10 (3), p. 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 (), „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 (în engleză), 6 (3), pp. e754–e754, doi:10.1038/tp.2016.18, ISSN 2158-3188, PMC 4872444 , PMID 26954981
- Kölker, S.; Ahlmeyer, B.; Krieglstein, J.; Hoffmann, G. F. (2000-06), „Methylmalonic acid induces excitotoxic neuronal damage in vitro”, Journal of Inherited Metabolic Disease (în engleză), 23 (4), pp. 355–358, doi:10.1023/A:1005631230455, ISSN 0141-8955 Verificați datele pentru:
|date=(ajutor) - 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”, Molecular Genetics & Genomic Medicine (în engleză), 9 (4), doi:10.1002/mgg3.1621, ISSN 2324-9269, PMC 8123733 , PMID 33625768 Verificați datele pentru:
|date=(ajutor) - Brown, G. K.; Scholem, R. D.; Bankier, A.; Danks, D. M. (1984-03), „Malonyl coenzyme a decarboxylase deficiency”, Journal of Inherited Metabolic Disease (în engleză), 7 (1), pp. 21–26, doi:10.1007/BF01805615, ISSN 0141-8955 Verificați datele pentru:
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