A. Alfares, L. D. Nunez, K. Al-Thihli, J. Mitchell, S. Melancon, N. Anastasio: Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. Journal of Medical Genetics, 1.9.2011, 48. vsk, nro 9, s. 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593. Artikkelin verkkoversio. en
doi.org
dx.doi.org
NIH Intramural Sequencing Center Group, Jennifer L Sloan, Jennifer J Johnston, Irini Manoli, Randy J Chandler, Caitlin Krause: Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics, 2011-09, 43. vsk, nro 9, s. 883–886. PubMed:21841779. doi:10.1038/ng.908. ISSN 1061-4036. Artikkelin verkkoversio. en
Lisa C. Sniderman, Marie Lambert, Robert Giguère, Christiane Auray-Blais, Bernard Lemieux, Rachel Laframboise: Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. The Journal of Pediatrics, 1999-06, 134. vsk, nro 6, s. 675–680. doi:10.1016/S0022-3476(99)70280-5. Artikkelin verkkoversio. en
Ping Wang, Jianbo Shu, Chunyu Gu, Xiaoli Yu, Jie Zheng, Chunhua Zhang: Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients. Frontiers in Pediatrics, 25.11.2021, 9. vsk, s. 751895. PubMed:34900860. doi:10.3389/fped.2021.751895. ISSN 2296-2360. Artikkelin verkkoversio.
A. Alfares, L. D. Nunez, K. Al-Thihli, J. Mitchell, S. Melancon, N. Anastasio: Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. Journal of Medical Genetics, 1.9.2011, 48. vsk, nro 9, s. 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593. Artikkelin verkkoversio. en
Zeinab Wehbe, Sidney Behringer, Khaled Alatibi, David Watkins, David Rosenblatt, Ute Spiekerkoetter: 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, 2019-11, 1864. vsk, nro 11, s. 1629–1643. doi:10.1016/j.bbalip.2019.07.012. Artikkelin verkkoversio. en
Alina Levtova, Paula J. Waters, Daniela Buhas, Sébastien Lévesque, Christiane Auray‐Blais, Joe T.R. Clarke: Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Journal of Inherited Metabolic Disease, 2019-01, 42. vsk, nro 1, s. 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955. Artikkelin verkkoversio. en
A. R. Gregg, A. W. Warman, D. R. Thorburn, W. E. O'Brien: Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies. Journal of Inherited Metabolic Disease, 1998-06, 21. vsk, nro 4, s. 382–390. doi:10.1023/A:1005302607897. Artikkelin verkkoversio. en
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, 2011-09, 286. vsk, nro 39, s. 33729–33736. PubMed:21846720. doi:10.1074/jbc.M111.291591. Artikkelin verkkoversio. en
Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan, Matthew H. Mossayebi, Charles P. Venditti, Huda B. Al‐Kouatly: Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Molecular Genetics & Genomic Medicine, 2021-04, 9. vsk, nro 4. PubMed:33625768. doi:10.1002/mgg3.1621. ISSN 2324-9269. Artikkelin verkkoversio. en
elsevier.com
linkinghub.elsevier.com
Lisa C. Sniderman, Marie Lambert, Robert Giguère, Christiane Auray-Blais, Bernard Lemieux, Rachel Laframboise: Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. The Journal of Pediatrics, 1999-06, 134. vsk, nro 6, s. 675–680. doi:10.1016/S0022-3476(99)70280-5. Artikkelin verkkoversio. en
Zeinab Wehbe, Sidney Behringer, Khaled Alatibi, David Watkins, David Rosenblatt, Ute Spiekerkoetter: 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, 2019-11, 1864. vsk, nro 11, s. 1629–1643. doi:10.1016/j.bbalip.2019.07.012. Artikkelin verkkoversio. en
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, 2011-09, 286. vsk, nro 39, s. 33729–33736. PubMed:21846720. doi:10.1074/jbc.M111.291591. Artikkelin verkkoversio. en
frontiersin.org
Ping Wang, Jianbo Shu, Chunyu Gu, Xiaoli Yu, Jie Zheng, Chunhua Zhang: Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients. Frontiers in Pediatrics, 25.11.2021, 9. vsk, s. 751895. PubMed:34900860. doi:10.3389/fped.2021.751895. ISSN 2296-2360. Artikkelin verkkoversio.
nature.com
NIH Intramural Sequencing Center Group, Jennifer L Sloan, Jennifer J Johnston, Irini Manoli, Randy J Chandler, Caitlin Krause: Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics, 2011-09, 43. vsk, nro 9, s. 883–886. PubMed:21841779. doi:10.1038/ng.908. ISSN 1061-4036. Artikkelin verkkoversio. en
nih.gov
pubmed.ncbi.nlm.nih.gov
NIH Intramural Sequencing Center Group, Jennifer L Sloan, Jennifer J Johnston, Irini Manoli, Randy J Chandler, Caitlin Krause: Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics, 2011-09, 43. vsk, nro 9, s. 883–886. PubMed:21841779. doi:10.1038/ng.908. ISSN 1061-4036. Artikkelin verkkoversio. en
Ping Wang, Jianbo Shu, Chunyu Gu, Xiaoli Yu, Jie Zheng, Chunhua Zhang: Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients. Frontiers in Pediatrics, 25.11.2021, 9. vsk, s. 751895. PubMed:34900860. doi:10.3389/fped.2021.751895. ISSN 2296-2360. Artikkelin verkkoversio.
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, 2011-09, 286. vsk, nro 39, s. 33729–33736. PubMed:21846720. doi:10.1074/jbc.M111.291591. Artikkelin verkkoversio. en
Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan, Matthew H. Mossayebi, Charles P. Venditti, Huda B. Al‐Kouatly: Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Molecular Genetics & Genomic Medicine, 2021-04, 9. vsk, nro 4. PubMed:33625768. doi:10.1002/mgg3.1621. ISSN 2324-9269. Artikkelin verkkoversio. en
springer.com
link.springer.com
Monique G. M. de Sain-van der Velden, Maria van der Ham, Judith J. Jans, Gepke Visser, Hubertus C. M. T. Prinsen, Nanda M. Verhoeven-Duif: A New Approach for Fast Metabolic Diagnostics in CMAMMA, s. 15–22. Berlin, Heidelberg: Springer Berlin Heidelberg, 2016. ISBN 978-3-662-53680-3, 978-3-662-53681-0. Teoksen verkkoversio.
wiley.com
onlinelibrary.wiley.com
Alina Levtova, Paula J. Waters, Daniela Buhas, Sébastien Lévesque, Christiane Auray‐Blais, Joe T.R. Clarke: Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Journal of Inherited Metabolic Disease, 2019-01, 42. vsk, nro 1, s. 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955. Artikkelin verkkoversio. en
Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan, Matthew H. Mossayebi, Charles P. Venditti, Huda B. Al‐Kouatly: Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Molecular Genetics & Genomic Medicine, 2021-04, 9. vsk, nro 4. PubMed:33625768. doi:10.1002/mgg3.1621. ISSN 2324-9269. Artikkelin verkkoversio. en
doi.wiley.com
A. R. Gregg, A. W. Warman, D. R. Thorburn, W. E. O'Brien: Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies. Journal of Inherited Metabolic Disease, 1998-06, 21. vsk, nro 4, s. 382–390. doi:10.1023/A:1005302607897. Artikkelin verkkoversio. en
worldcat.org
NIH Intramural Sequencing Center Group, Jennifer L Sloan, Jennifer J Johnston, Irini Manoli, Randy J Chandler, Caitlin Krause: Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics, 2011-09, 43. vsk, nro 9, s. 883–886. PubMed:21841779. doi:10.1038/ng.908. ISSN 1061-4036. Artikkelin verkkoversio. en
Ping Wang, Jianbo Shu, Chunyu Gu, Xiaoli Yu, Jie Zheng, Chunhua Zhang: Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients. Frontiers in Pediatrics, 25.11.2021, 9. vsk, s. 751895. PubMed:34900860. doi:10.3389/fped.2021.751895. ISSN 2296-2360. Artikkelin verkkoversio.
A. Alfares, L. D. Nunez, K. Al-Thihli, J. Mitchell, S. Melancon, N. Anastasio: Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. Journal of Medical Genetics, 1.9.2011, 48. vsk, nro 9, s. 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593. Artikkelin verkkoversio. en
Alina Levtova, Paula J. Waters, Daniela Buhas, Sébastien Lévesque, Christiane Auray‐Blais, Joe T.R. Clarke: Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Journal of Inherited Metabolic Disease, 2019-01, 42. vsk, nro 1, s. 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955. Artikkelin verkkoversio. en
Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan, Matthew H. Mossayebi, Charles P. Venditti, Huda B. Al‐Kouatly: Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Molecular Genetics & Genomic Medicine, 2021-04, 9. vsk, nro 4. PubMed:33625768. doi:10.1002/mgg3.1621. ISSN 2324-9269. Artikkelin verkkoversio. en