Kombinirana malonska in metilmalonska acidurija (Slovenian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Kombinirana malonska in metilmalonska acidurija" in Slovenian 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

4,679^th place

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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. (1. september 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 (v angleščini). Zv. 48, št. 9. str. 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 (2016). Morava, Eva (ur.). A New Approach for Fast Metabolic Diagnostics in CMAMMA. Zv. 30. Berlin, Heidelberg: Springer Berlin Heidelberg. str. 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 (september 2011). »Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria«. Nature Genetics (v angleščini). Zv. 43, št. 9. str. 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779.{{navedi revijo}}: Vzdrževanje CS1: samodejni prevod datuma (povezava)
Sniderman, Lisa C.; Lambert, Marie; Giguère, Robert; Auray-Blais, Christiane; Lemieux, Bernard; Laframboise, Rachel; Rosenblatt, David S.; Treacy, Eileen P. (Junij 1999). »Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program«. The Journal of Pediatrics (v angleščini). Zv. 134, št. 6. str. 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. november 2021). »Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients«. Frontiers in Pediatrics. Zv. 9. str. 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMC 8658908. PMID 34900860.
Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N.; Ha, K. C. H.; Majewski, J.; Rosenblatt, D. S. (1. september 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 (v angleščini). Zv. 48, št. 9. str. 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 (november 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 (v angleščini). Zv. 1864, št. 11. str. 1629–1643. doi:10.1016/j.bbalip.2019.07.012.{{navedi revijo}}: Vzdrževanje CS1: samodejni prevod datuma (povezava)
Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray‐Blais, Christiane; Clarke, Joe T.R.; Laframboise, Rachel; Maranda, Bruno; Mitchell, Grant A. (Januar 2019). »Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort«. Journal of Inherited Metabolic Disease (v angleščini). Zv. 42, št. 1. str. 107–116. doi:10.1002/jimd.12032. ISSN 0141-8955.
Gregg, A. R.; Warman, A. W.; Thorburn, D. R.; O'Brien, W. E. (Junij 1998). »Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies«. Journal of Inherited Metabolic Disease (v angleščini). Zv. 21, št. 4. str. 382–390. doi:10.1023/A:1005302607897.
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (september 2011). »Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis«. Journal of Biological Chemistry (v angleščini). Zv. 286, št. 39. str. 33729–33736. doi:10.1074/jbc.M111.291591. PMC 3190830. PMID 21846720.{{navedi revijo}}: Vzdrževanje CS1: samodejni prevod datuma (povezava)
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. (april 2021). »Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria«. Molecular Genetics & Genomic Medicine (v angleščini). Zv. 9, št. 4. doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC 8123733. PMID 33625768.{{navedi revijo}}: Vzdrževanje CS1: samodejni prevod datuma (povezava)

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. (Junij 1999). »Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program«. The Journal of Pediatrics (v angleščini). Zv. 134, št. 6. str. 675–680. doi:10.1016/S0022-3476(99)70280-5.
Wehbe, Zeinab; Behringer, Sidney; Alatibi, Khaled; Watkins, David; Rosenblatt, David; Spiekerkoetter, Ute; Tucci, Sara (november 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 (v angleščini). Zv. 1864, št. 11. str. 1629–1643. doi:10.1016/j.bbalip.2019.07.012.{{navedi revijo}}: Vzdrževanje CS1: samodejni prevod datuma (povezava)
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (september 2011). »Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis«. Journal of Biological Chemistry (v angleščini). Zv. 286, št. 39. str. 33729–33736. doi:10.1074/jbc.M111.291591. PMC 3190830. PMID 21846720.{{navedi revijo}}: Vzdrževanje CS1: samodejni prevod datuma (povezava)

frontiersin.org

Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (25. november 2021). »Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients«. Frontiers in Pediatrics. Zv. 9. str. 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMC 8658908. PMID 34900860.

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 (september 2011). »Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria«. Nature Genetics (v angleščini). Zv. 43, št. 9. str. 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779.{{navedi revijo}}: Vzdrževanje CS1: samodejni prevod datuma (povezava)

nih.gov

ncbi.nlm.nih.gov

de Sain-van der Velden, Monique G. M.; van der Ham, Maria; Jans, Judith J.; Visser, Gepke (2016). Morava, Eva (ur.). A New Approach for Fast Metabolic Diagnostics in CMAMMA. Zv. 30. Berlin, Heidelberg: Springer Berlin Heidelberg. str. 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 (september 2011). »Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria«. Nature Genetics (v angleščini). Zv. 43, št. 9. str. 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779.{{navedi revijo}}: Vzdrževanje CS1: samodejni prevod datuma (povezava)
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (25. november 2021). »Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients«. Frontiers in Pediatrics. Zv. 9. str. 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMC 8658908. PMID 34900860.
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (september 2011). »Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis«. Journal of Biological Chemistry (v angleščini). Zv. 286, št. 39. str. 33729–33736. doi:10.1074/jbc.M111.291591. PMC 3190830. PMID 21846720.{{navedi revijo}}: Vzdrževanje CS1: samodejni prevod datuma (povezava)
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. (april 2021). »Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria«. Molecular Genetics & Genomic Medicine (v angleščini). Zv. 9, št. 4. doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC 8123733. PMID 33625768.{{navedi revijo}}: Vzdrževanje CS1: samodejni prevod datuma (povezava)

pubmed.ncbi.nlm.nih.gov

de Sain-van der Velden, Monique G. M.; van der Ham, Maria; Jans, Judith J.; Visser, Gepke (2016). Morava, Eva (ur.). A New Approach for Fast Metabolic Diagnostics in CMAMMA. Zv. 30. Berlin, Heidelberg: Springer Berlin Heidelberg. str. 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 (september 2011). »Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria«. Nature Genetics (v angleščini). Zv. 43, št. 9. str. 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779.{{navedi revijo}}: Vzdrževanje CS1: samodejni prevod datuma (povezava)
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (25. november 2021). »Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients«. Frontiers in Pediatrics. Zv. 9. str. 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMC 8658908. PMID 34900860.
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (september 2011). »Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis«. Journal of Biological Chemistry (v angleščini). Zv. 286, št. 39. str. 33729–33736. doi:10.1074/jbc.M111.291591. PMC 3190830. PMID 21846720.{{navedi revijo}}: Vzdrževanje CS1: samodejni prevod datuma (povezava)
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. (april 2021). »Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria«. Molecular Genetics & Genomic Medicine (v angleščini). Zv. 9, št. 4. doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC 8123733. PMID 33625768.{{navedi revijo}}: Vzdrževanje CS1: samodejni prevod datuma (povezava)

springer.com

link.springer.com

de Sain-van der Velden, Monique G. M.; van der Ham, Maria; Jans, Judith J.; Visser, Gepke (2016). Morava, Eva (ur.). A New Approach for Fast Metabolic Diagnostics in CMAMMA. Zv. 30. Berlin, Heidelberg: Springer Berlin Heidelberg. str. 15–22. doi:10.1007/8904_2016_531. ISBN 978-3-662-53680-3. PMC 5110436. PMID 26915364.

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. (Januar 2019). »Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort«. Journal of Inherited Metabolic Disease (v angleščini). Zv. 42, št. 1. str. 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. (april 2021). »Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria«. Molecular Genetics & Genomic Medicine (v angleščini). Zv. 9, št. 4. doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC 8123733. PMID 33625768.{{navedi revijo}}: Vzdrževanje CS1: samodejni prevod datuma (povezava)

doi.wiley.com

Gregg, A. R.; Warman, A. W.; Thorburn, D. R.; O'Brien, W. E. (Junij 1998). »Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies«. Journal of Inherited Metabolic Disease (v angleščini). Zv. 21, št. 4. str. 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 (september 2011). »Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria«. Nature Genetics (v angleščini). Zv. 43, št. 9. str. 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779.{{navedi revijo}}: Vzdrževanje CS1: samodejni prevod datuma (povezava)
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (25. november 2021). »Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients«. Frontiers in Pediatrics. Zv. 9. str. 751895. doi:10.3389/fped.2021.751895. ISSN 2296-2360. PMC 8658908. PMID 34900860.
Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N.; Ha, K. C. H.; Majewski, J.; Rosenblatt, D. S. (1. september 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 (v angleščini). Zv. 48, št. 9. str. 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. (Januar 2019). »Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort«. Journal of Inherited Metabolic Disease (v angleščini). Zv. 42, št. 1. str. 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. (april 2021). »Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria«. Molecular Genetics & Genomic Medicine (v angleščini). Zv. 9, št. 4. doi:10.1002/mgg3.1621. ISSN 2324-9269. PMC 8123733. PMID 33625768.{{navedi revijo}}: Vzdrževanje CS1: samodejni prevod datuma (povezava)