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Złożona kwasica malonowa i metylomalonowa (Polish Wikipedia)

Analysis of information sources in references of the Wikipedia article "Złożona kwasica malonowa i metylomalonowa" in Polish language version.

refsWebsite
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16doi.org
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10nih.gov
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1web.archive.org
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1mayocliniclabs.com
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doi.org

dx.doi.org

  • Monique G.M. de Sain-van der Velden i inni, A New Approach for Fast Metabolic Diagnostics in CMAMMA, [w:] Eva Morava i inni red., JIMD Reports, Volume 30, Berlin, Heidelberg: Springer Berlin Heidelberg, 2016, s. 15–22, DOI: 10.1007/8904_2016_531, ISBN 978-3-662-53680-3, PMID: 26915364, PMCID: PMC5110436 (ang.).
  • Alina Levtova i inni, Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort, „Journal of Inherited Metabolic Disease”, 42 (1), 2019, s. 107–116, DOI: 10.1002/jimd.12032 [dostęp 2024-10-03] (ang.).
  • Zeinab Wehbe i inni, 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), 2019, s. 1629–1643, DOI: 10.1016/j.bbalip.2019.07.012 [dostęp 2024-10-03] (ang.).
  • NIH Intramural Sequencing Center Group i inni, Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria, „Nature Genetics”, 43 (9), 2011, s. 883–886, DOI: 10.1038/ng.908, PMID: 21841779, PMCID: PMC3163731 [dostęp 2024-10-03] (ang.).
  • Lisa C. Sniderman i inni, Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program, „The Journal of Pediatrics”, 134 (6), 1999, s. 675–680, DOI: 10.1016/S0022-3476(99)70280-5 [dostęp 2024-10-03] (ang.).
  • Ping Wang i inni, Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients, „Frontiers in Pediatrics”, 9, 2021, DOI: 10.3389/fped.2021.751895, PMID: 34900860, PMCID: PMC8658908 [dostęp 2024-10-03] (ang.).
  • A. Alfares i inni, 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), 2011, s. 602–605, DOI: 10.1136/jmedgenet-2011-100230 [dostęp 2024-10-03] (ang.).
  • A.R. Gregg i inni, Combined malonic and methylmalonic aciduria with normal malonyl‐coenzyme A decarboxylase activity: A case supporting multiple aetiologies, „Journal of Inherited Metabolic Disease”, 21 (4), 1998, s. 382–390, DOI: 10.1023/A:1005302607897 [dostęp 2024-10-03] (ang.).
  • Andrzej Witkowski, Jennifer Thweatt, Stuart Smith, 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), 2011, s. 33729–33736, DOI: 10.1074/jbc.M111.291591, PMID: 21846720, PMCID: PMC3190830 [dostęp 2024-10-03] (ang.).
  • Joon Kee Lee, Arum Oh, 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), 2023, DOI: 10.3346/jkms.2023.38.e387, PMID: 37987109, PMCID: PMC10659923 [dostęp 2024-10-03] (ang.).
  • Caitlyn E. Bowman, Michael J. Wolfgang, Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism, „Advances in Biological Regulation”, 71, 2019, s. 34–40, DOI: 10.1016/j.jbior.2018.09.002, PMID: 30201289, PMCID: PMC6347522 [dostęp 2024-10-03] (ang.).
  • Caitlyn E. Bowman i inni, The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency, „Cell Chemical Biology”, 24 (6), 2017, 673–684.e4, DOI: 10.1016/j.chembiol.2017.04.009, PMID: 28479296, PMCID: PMC5482780 [dostęp 2024-10-03] (ang.).
  • Sara Tucci, Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria, „Orphanet Journal of Rare Diseases”, 15 (1), 2020, DOI: 10.1186/s13023-020-1299-7, PMID: 31969167, PMCID: PMC6977288 [dostęp 2024-10-03] (ang.).
  • Marie Cosette Gabriel i inni, Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria, „Molecular Genetics & Genomic Medicine”, 9 (4), 2021, DOI: 10.1002/mgg3.1621, PMID: 33625768, PMCID: PMC8123733 [dostęp 2024-10-03] (ang.).
  • G.K. Brown i inni, Malonyl coenzyme a decarboxylase deficiency, „Journal of Inherited Metabolic Disease”, 7 (1), 1984, s. 21–26, DOI: 10.1007/BF01805615 [dostęp 2024-10-03] (ang.).
  • G.K. Brown i inni, Malonyl coenzyme a decarboxylase deficiency, „Journal of Inherited Metabolic Disease”, 7 (1), 1984, s. 21–26, DOI: 10.1007/BF01805615 [dostęp 2024-10-03] (ang.).

mayocliniclabs.com

nih.gov

ncbi.nlm.nih.gov

  • Monique G.M. de Sain-van der Velden i inni, A New Approach for Fast Metabolic Diagnostics in CMAMMA, [w:] Eva Morava i inni red., JIMD Reports, Volume 30, Berlin, Heidelberg: Springer Berlin Heidelberg, 2016, s. 15–22, DOI: 10.1007/8904_2016_531, ISBN 978-3-662-53680-3, PMID: 26915364, PMCID: PMC5110436 (ang.).
  • NIH Intramural Sequencing Center Group i inni, Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria, „Nature Genetics”, 43 (9), 2011, s. 883–886, DOI: 10.1038/ng.908, PMID: 21841779, PMCID: PMC3163731 [dostęp 2024-10-03] (ang.).
  • Ping Wang i inni, Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients, „Frontiers in Pediatrics”, 9, 2021, DOI: 10.3389/fped.2021.751895, PMID: 34900860, PMCID: PMC8658908 [dostęp 2024-10-03] (ang.).
  • Andrzej Witkowski, Jennifer Thweatt, Stuart Smith, 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), 2011, s. 33729–33736, DOI: 10.1074/jbc.M111.291591, PMID: 21846720, PMCID: PMC3190830 [dostęp 2024-10-03] (ang.).
  • Joon Kee Lee, Arum Oh, 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), 2023, DOI: 10.3346/jkms.2023.38.e387, PMID: 37987109, PMCID: PMC10659923 [dostęp 2024-10-03] (ang.).
  • Caitlyn E. Bowman, Michael J. Wolfgang, Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism, „Advances in Biological Regulation”, 71, 2019, s. 34–40, DOI: 10.1016/j.jbior.2018.09.002, PMID: 30201289, PMCID: PMC6347522 [dostęp 2024-10-03] (ang.).
  • Caitlyn E. Bowman i inni, The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency, „Cell Chemical Biology”, 24 (6), 2017, 673–684.e4, DOI: 10.1016/j.chembiol.2017.04.009, PMID: 28479296, PMCID: PMC5482780 [dostęp 2024-10-03] (ang.).
  • Sara Tucci, Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria, „Orphanet Journal of Rare Diseases”, 15 (1), 2020, DOI: 10.1186/s13023-020-1299-7, PMID: 31969167, PMCID: PMC6977288 [dostęp 2024-10-03] (ang.).
  • Irini Manoli, Jennifer L. Sloan, Charles P. Venditti, Isolated Methylmalonic Acidemia, [w:] GeneReviews, University of Washington, Seattle, National Library of Medicine, 1993, PMID: 20301409 [dostęp 2024-10-03].
  • Marie Cosette Gabriel i inni, Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria, „Molecular Genetics & Genomic Medicine”, 9 (4), 2021, DOI: 10.1002/mgg3.1621, PMID: 33625768, PMCID: PMC8123733 [dostęp 2024-10-03] (ang.).

web.archive.org