Kombinirana malonska i metilmalonska acidurija (Croatian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Kombinirana malonska i metilmalonska acidurija" in Croatian language version.

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10doi.org

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10nih.gov

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5worldcat.org

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3elsevier.com

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3wiley.com

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1springer.com

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1nature.com

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1frontiersin.org

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1bmj.com

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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.; Braverman, N. 1. rujna 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 (engleski). 48 (9): 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. 2016. Morava, Eva; Baumgartner, Matthias; Patterson, Marc; Rahman, Shamima; Zschocke, Johannes; Peters, Verena (ur.). A New Approach for Fast Metabolic Diagnostics in CMAMMA. 30. Springer Berlin Heidelberg. Berlin, Heidelberg. str. 15–22. doi:10.1007/8904_2016_531. ISBN 978-3-662-53680-3. PMC 5110436. PMID 26915364CS1 održavanje: format PMC-a (link)
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; O'Brien, Kevin; Hauser, Natalie S. Rujan 2011. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics (engleski). 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779CS1 održavanje: format PMC-a (link)
Sniderman, Lisa C.; Lambert, Marie; Giguère, Robert; Auray-Blais, Christiane; Lemieux, Bernard; Laframboise, Rachel; Rosenblatt, David S.; Treacy, Eileen P. Lipanj 1999. Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. The Journal of Pediatrics (engleski). 134 (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. studenoga 2021. Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients. Frontiers in Pediatrics. 9: 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMC PMC8658908 Provjerite vrijednost parametra |pmc= (pomoć). PMID 34900860 Provjerite vrijednost parametra |pmid= (pomoć)CS1 održavanje: format PMC-a (link)
Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N.; Ha, K. C. H.; Majewski, J.; Rosenblatt, D. S.; Braverman, N. 1. rujna 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 (engleski). 48 (9): 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593
Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute; Tucci, Sara. Studeni 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 (engleski). 1864 (11): 1629–1643. doi:10.1016/j.bbalip.2019.07.012
Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray‐Blais, Christiane; Clarke, Joe T.R.; Laframboise, Rachel; Maranda, Bruno; Mitchell, Grant A.; Brunel‐Guitton, Catherine; Braverman, Nancy E. Siječanj 2019. Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Journal of Inherited Metabolic Disease (engleski). 42 (1): 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955
Gregg, A. R.; Warman, A. W.; Thorburn, D. R.; O'Brien, W. E. Lipanj 1998. Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies. Journal of Inherited Metabolic Disease (engleski). 21 (4): 382–390. doi:10.1023/A:1005302607897
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart. Rujan 2011. Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis. Journal of Biological Chemistry (engleski). 286 (39): 33729–33736. doi:10.1074/jbc.M111.291591. PMC 3190830. PMID 21846720CS1 održavanje: format PMC-a (link)
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. Travanj 2021. Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Molecular Genetics & Genomic Medicine (engleski). 9 (4). doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC PMC8123733 Provjerite vrijednost parametra |pmc= (pomoć). PMID 33625768CS1 održavanje: format PMC-a (link)

elsevier.com

linkinghub.elsevier.com

Sniderman, Lisa C.; Lambert, Marie; Giguère, Robert; Auray-Blais, Christiane; Lemieux, Bernard; Laframboise, Rachel; Rosenblatt, David S.; Treacy, Eileen P. Lipanj 1999. Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. The Journal of Pediatrics (engleski). 134 (6): 675–680. doi:10.1016/S0022-3476(99)70280-5
Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute; Tucci, Sara. Studeni 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 (engleski). 1864 (11): 1629–1643. doi:10.1016/j.bbalip.2019.07.012
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart. Rujan 2011. Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis. Journal of Biological Chemistry (engleski). 286 (39): 33729–33736. doi:10.1074/jbc.M111.291591. PMC 3190830. PMID 21846720CS1 održavanje: format PMC-a (link)

frontiersin.org

Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan. 25. studenoga 2021. Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients. Frontiers in Pediatrics. 9: 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMC PMC8658908 Provjerite vrijednost parametra |pmc= (pomoć). PMID 34900860 Provjerite vrijednost parametra |pmid= (pomoć)CS1 održavanje: format PMC-a (link)

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; O'Brien, Kevin; Hauser, Natalie S. Rujan 2011. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics (engleski). 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779CS1 održavanje: format PMC-a (link)

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 (ur.). A New Approach for Fast Metabolic Diagnostics in CMAMMA. 30. Springer Berlin Heidelberg. Berlin, Heidelberg. str. 15–22. doi:10.1007/8904_2016_531. ISBN 978-3-662-53680-3. PMC 5110436. PMID 26915364CS1 održavanje: format PMC-a (link)
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; O'Brien, Kevin; Hauser, Natalie S. Rujan 2011. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics (engleski). 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779CS1 održavanje: format PMC-a (link)
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan. 25. studenoga 2021. Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients. Frontiers in Pediatrics. 9: 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMC PMC8658908 Provjerite vrijednost parametra |pmc= (pomoć). PMID 34900860 Provjerite vrijednost parametra |pmid= (pomoć)CS1 održavanje: format PMC-a (link)
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart. Rujan 2011. Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis. Journal of Biological Chemistry (engleski). 286 (39): 33729–33736. doi:10.1074/jbc.M111.291591. PMC 3190830. PMID 21846720CS1 održavanje: format PMC-a (link)
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. Travanj 2021. Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Molecular Genetics & Genomic Medicine (engleski). 9 (4). doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC PMC8123733 Provjerite vrijednost parametra |pmc= (pomoć). PMID 33625768CS1 održavanje: format PMC-a (link)

pubmed.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 (ur.). A New Approach for Fast Metabolic Diagnostics in CMAMMA. 30. Springer Berlin Heidelberg. Berlin, Heidelberg. str. 15–22. doi:10.1007/8904_2016_531. ISBN 978-3-662-53680-3. PMC 5110436. PMID 26915364CS1 održavanje: format PMC-a (link)
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; O'Brien, Kevin; Hauser, Natalie S. Rujan 2011. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics (engleski). 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779CS1 održavanje: format PMC-a (link)
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan. 25. studenoga 2021. Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients. Frontiers in Pediatrics. 9: 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMC PMC8658908 Provjerite vrijednost parametra |pmc= (pomoć). PMID 34900860 Provjerite vrijednost parametra |pmid= (pomoć)CS1 održavanje: format PMC-a (link)
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart. Rujan 2011. Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis. Journal of Biological Chemistry (engleski). 286 (39): 33729–33736. doi:10.1074/jbc.M111.291591. PMC 3190830. PMID 21846720CS1 održavanje: format PMC-a (link)
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. Travanj 2021. Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Molecular Genetics & Genomic Medicine (engleski). 9 (4). doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC PMC8123733 Provjerite vrijednost parametra |pmc= (pomoć). PMID 33625768CS1 održavanje: format PMC-a (link)

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 (ur.). A New Approach for Fast Metabolic Diagnostics in CMAMMA. 30. Springer Berlin Heidelberg. Berlin, Heidelberg. str. 15–22. doi:10.1007/8904_2016_531. ISBN 978-3-662-53680-3. PMC 5110436. PMID 26915364CS1 održavanje: format PMC-a (link)

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.; Brunel‐Guitton, Catherine; Braverman, Nancy E. Siječanj 2019. Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Journal of Inherited Metabolic Disease (engleski). 42 (1): 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. Travanj 2021. Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Molecular Genetics & Genomic Medicine (engleski). 9 (4). doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC PMC8123733 Provjerite vrijednost parametra |pmc= (pomoć). PMID 33625768CS1 održavanje: format PMC-a (link)

doi.wiley.com

Gregg, A. R.; Warman, A. W.; Thorburn, D. R.; O'Brien, W. E. Lipanj 1998. Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies. Journal of Inherited Metabolic Disease (engleski). 21 (4): 382–390. doi:10.1023/A:1005302607897

worldcat.org

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; O'Brien, Kevin; Hauser, Natalie S. Rujan 2011. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics (engleski). 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779CS1 održavanje: format PMC-a (link)
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan. 25. studenoga 2021. Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients. Frontiers in Pediatrics. 9: 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMC PMC8658908 Provjerite vrijednost parametra |pmc= (pomoć). PMID 34900860 Provjerite vrijednost parametra |pmid= (pomoć)CS1 održavanje: format PMC-a (link)
Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N.; Ha, K. C. H.; Majewski, J.; Rosenblatt, D. S.; Braverman, N. 1. rujna 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 (engleski). 48 (9): 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593
Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray‐Blais, Christiane; Clarke, Joe T.R.; Laframboise, Rachel; Maranda, Bruno; Mitchell, Grant A.; Brunel‐Guitton, Catherine; Braverman, Nancy E. Siječanj 2019. Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Journal of Inherited Metabolic Disease (engleski). 42 (1): 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. Travanj 2021. Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Molecular Genetics & Genomic Medicine (engleski). 9 (4). doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC PMC8123733 Provjerite vrijednost parametra |pmc= (pomoć). PMID 33625768CS1 održavanje: format PMC-a (link)