Gecombineerde malon- en methylmalonacidurie (Dutch Wikipedia)

Analysis of information sources in references of the Wikipedia article "Gecombineerde malon- en methylmalonacidurie" in Dutch language version.

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9doi.org

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8nih.gov

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5worldcat.org

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3web.archive.org

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2elsevier.com

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bmj.com

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(en) Alfares, A., Nunez, L. D., Al-Thihli, K., Mitchell, J., Melancon, S. (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. ISSN: 0022-2593. PMID 21785126. DOI: 10.1136/jmedgenet-2011-100230.

doi.org

(en) NIH Intramural Sequencing Center Group (2011). Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics 43 (9): 883–886. ISSN: 1061-4036. PMID 21841779. PMC 3163731. DOI: 10.1038/ng.908.
(en) Sniderman, Lisa C. (1999). Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. The Journal of Pediatrics 134 (6): 675–680. PMID 10356133. DOI: 10.1016/S0022-3476(99)70280-5. Gearchiveerd van origineel op 6 augustus 2022.
Wang, Ping, Shu, Jianbo, Gu, Chunyu, Yu, Xiaoli, Zheng, Jie (2021). Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients. Frontiers in Pediatrics 9: 751895. ISSN: 2296-2360. PMID 34900860. PMC 8658908. DOI: 10.3389/fped.2021.751895.
(en) Alfares, A., Nunez, L. D., Al-Thihli, K., Mitchell, J., Melancon, S. (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. ISSN: 0022-2593. PMID 21785126. DOI: 10.1136/jmedgenet-2011-100230.
(en) Wehbe, Zeinab, Behringer, Sidney, Alatibi, Khaled, Watkins, David, Rosenblatt, David (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. Gearchiveerd van origineel op 12 augustus 2022.
(en) Levtova, Alina, Waters, Paula J., Buhas, Daniela, Lévesque, Sébastien, Auray‐Blais, Christiane (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. ISSN: 0141-8955. PMID 30740739. DOI: 10.1002/jimd.12032. Gearchiveerd van origineel op 22 september 2022.
(en) 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. PMID 9700595. DOI: 10.1023/A:1005302607897.
(en) Witkowski, Andrzej (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. PMID 21846720. PMC 3190830. DOI: 10.1074/jbc.M111.291591.
(en) Gabriel, Marie Cosette, Rice, Stephanie M., Sloan, Jennifer L., Mossayebi, Matthew H., Venditti, Charles P. (2021). Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Molecular Genetics & Genomic Medicine 9 (4): e1621. ISSN: 2324-9269. PMID 33625768. PMC 8123733. DOI: 10.1002/mgg3.1621.

elsevier.com

linkinghub.elsevier.com

(en) Sniderman, Lisa C. (1999). Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. The Journal of Pediatrics 134 (6): 675–680. PMID 10356133. DOI: 10.1016/S0022-3476(99)70280-5. Gearchiveerd van origineel op 6 augustus 2022.
(en) Wehbe, Zeinab, Behringer, Sidney, Alatibi, Khaled, Watkins, David, Rosenblatt, David (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. Gearchiveerd van origineel op 12 augustus 2022.

nih.gov

ncbi.nlm.nih.gov

(en) NIH Intramural Sequencing Center Group (2011). Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics 43 (9): 883–886. ISSN: 1061-4036. PMID 21841779. PMC 3163731. DOI: 10.1038/ng.908.
(en) Sniderman, Lisa C. (1999). Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. The Journal of Pediatrics 134 (6): 675–680. PMID 10356133. DOI: 10.1016/S0022-3476(99)70280-5. Gearchiveerd van origineel op 6 augustus 2022.
Wang, Ping, Shu, Jianbo, Gu, Chunyu, Yu, Xiaoli, Zheng, Jie (2021). Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients. Frontiers in Pediatrics 9: 751895. ISSN: 2296-2360. PMID 34900860. PMC 8658908. DOI: 10.3389/fped.2021.751895.
(en) Alfares, A., Nunez, L. D., Al-Thihli, K., Mitchell, J., Melancon, S. (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. ISSN: 0022-2593. PMID 21785126. DOI: 10.1136/jmedgenet-2011-100230.
(en) Levtova, Alina, Waters, Paula J., Buhas, Daniela, Lévesque, Sébastien, Auray‐Blais, Christiane (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. ISSN: 0141-8955. PMID 30740739. DOI: 10.1002/jimd.12032. Gearchiveerd van origineel op 22 september 2022.
(en) 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. PMID 9700595. DOI: 10.1023/A:1005302607897.
(en) Witkowski, Andrzej (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. PMID 21846720. PMC 3190830. DOI: 10.1074/jbc.M111.291591.
(en) Gabriel, Marie Cosette, Rice, Stephanie M., Sloan, Jennifer L., Mossayebi, Matthew H., Venditti, Charles P. (2021). Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Molecular Genetics & Genomic Medicine 9 (4): e1621. ISSN: 2324-9269. PMID 33625768. PMC 8123733. DOI: 10.1002/mgg3.1621.

springer.com

link.springer.com

(en) 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 (2016). A New Approach for Fast Metabolic Diagnostics in CMAMMA. Springer Berlin Heidelberg, Berlin, Heidelberg, 15–22. ISBN 978-3-662-53680-3.

web.archive.org

(en) Sniderman, Lisa C. (1999). Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. The Journal of Pediatrics 134 (6): 675–680. PMID 10356133. DOI: 10.1016/S0022-3476(99)70280-5. Gearchiveerd van origineel op 6 augustus 2022.
(en) Wehbe, Zeinab, Behringer, Sidney, Alatibi, Khaled, Watkins, David, Rosenblatt, David (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. Gearchiveerd van origineel op 12 augustus 2022.
(en) Levtova, Alina, Waters, Paula J., Buhas, Daniela, Lévesque, Sébastien, Auray‐Blais, Christiane (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. ISSN: 0141-8955. PMID 30740739. DOI: 10.1002/jimd.12032. Gearchiveerd van origineel op 22 september 2022.

wiley.com

onlinelibrary.wiley.com

(en) Levtova, Alina, Waters, Paula J., Buhas, Daniela, Lévesque, Sébastien, Auray‐Blais, Christiane (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. ISSN: 0141-8955. PMID 30740739. DOI: 10.1002/jimd.12032. Gearchiveerd van origineel op 22 september 2022.

doi.wiley.com

(en) 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. PMID 9700595. DOI: 10.1023/A:1005302607897.

worldcat.org

(en) NIH Intramural Sequencing Center Group (2011). Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics 43 (9): 883–886. ISSN: 1061-4036. PMID 21841779. PMC 3163731. DOI: 10.1038/ng.908.
Wang, Ping, Shu, Jianbo, Gu, Chunyu, Yu, Xiaoli, Zheng, Jie (2021). Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients. Frontiers in Pediatrics 9: 751895. ISSN: 2296-2360. PMID 34900860. PMC 8658908. DOI: 10.3389/fped.2021.751895.
(en) Alfares, A., Nunez, L. D., Al-Thihli, K., Mitchell, J., Melancon, S. (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. ISSN: 0022-2593. PMID 21785126. DOI: 10.1136/jmedgenet-2011-100230.
(en) Levtova, Alina, Waters, Paula J., Buhas, Daniela, Lévesque, Sébastien, Auray‐Blais, Christiane (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. ISSN: 0141-8955. PMID 30740739. DOI: 10.1002/jimd.12032. Gearchiveerd van origineel op 22 september 2022.
(en) Gabriel, Marie Cosette, Rice, Stephanie M., Sloan, Jennifer L., Mossayebi, Matthew H., Venditti, Charles P. (2021). Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Molecular Genetics & Genomic Medicine 9 (4): e1621. ISSN: 2324-9269. PMID 33625768. PMC 8123733. DOI: 10.1002/mgg3.1621.