Kombinirana malonska i metilmalonska acidurija (Serbo-Croatian Wikipedia)

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

refsWebsite

Global rank Serbo-Croatian rank

10doi.org

2^nd place

6worldcat.org

5^th place

25^th place

5nih.gov

4^th place

3^rd place

3elsevier.com

610^th place

525^th place

3wiley.com

222^nd place

57^th place

1nature.com

234^th place

154^th place

1frontiersin.org

4,679^th place

low place

1bmj.com

1,226^th place

501^st place

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. i dr.. (2011-09-01). „Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype” (en). Journal of Medical Genetics 48 (9): 602–605. DOI:10.1136/jmedgenet-2011-100230. ISSN 0022-2593.

doi.org

dx.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. (2016-02-27). „A New Approach for Fast Metabolic Diagnostics in CMAMMA”. JIMD Reports 30: 15–22. DOI:10.1007/8904_2016_531. ISSN 2192-8304. 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 i dr.. (2011-09). „Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria” (en). Nature Genetics 43 (9): 883–886. DOI:10.1038/ng.908. ISSN 1061-4036. PMC PMC3163731. PMID 21841779.
Sniderman, Lisa C.; Lambert, Marie; Giguère, Robert; Auray-Blais, Christiane; Lemieux, Bernard; Laframboise, Rachel; Rosenblatt, David S.; Treacy, Eileen P. (1999-06). „Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program” (en). The Journal of Pediatrics 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 (2021-11-25). „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. PMID 34900860.
Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N.; Ha, K. C. H.; Majewski, J. i dr.. (2011-09-01). „Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype” (en). Journal of Medical Genetics 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 (2019-11). „The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism” (en). Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 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 i dr.. (2019-01). „Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort” (en). Journal of Inherited Metabolic Disease 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. (1998-06). „Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies” (en). Journal of Inherited Metabolic Disease 21 (4): 382–390. DOI:10.1023/A:1005302607897.
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (2011-09). „Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis” (en). Journal of Biological Chemistry 286 (39): 33729–33736. DOI:10.1074/jbc.M111.291591. PMC PMC3190830. PMID 21846720.
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. (2021-04). „Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria” (en). Molecular Genetics & Genomic Medicine 9 (4). DOI:10.1002/mgg3.1621. ISSN 2324-9269. PMC PMC8123733. PMID 33625768.

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. (1999-06). „Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program” (en). The Journal of Pediatrics 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 (2019-11). „The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism” (en). Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1864 (11): 1629–1643. DOI:10.1016/j.bbalip.2019.07.012.
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (2011-09). „Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis” (en). Journal of Biological Chemistry 286 (39): 33729–33736. DOI:10.1074/jbc.M111.291591. PMC PMC3190830. PMID 21846720.

frontiersin.org

Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (2021-11-25). „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. 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 i dr.. (2011-09). „Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria” (en). Nature Genetics 43 (9): 883–886. DOI:10.1038/ng.908. ISSN 1061-4036. PMC PMC3163731. PMID 21841779.

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. (2016-02-27). „A New Approach for Fast Metabolic Diagnostics in CMAMMA”. JIMD Reports 30: 15–22. DOI:10.1007/8904_2016_531. ISSN 2192-8304. 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 i dr.. (2011-09). „Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria” (en). Nature Genetics 43 (9): 883–886. DOI:10.1038/ng.908. ISSN 1061-4036. PMC PMC3163731. PMID 21841779.
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (2021-11-25). „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. PMID 34900860.
Witkowski, Andrzej; Thweatt, Jennifer; Smith, Stuart (2011-09). „Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis” (en). Journal of Biological Chemistry 286 (39): 33729–33736. DOI:10.1074/jbc.M111.291591. PMC PMC3190830. PMID 21846720.
Gabriel, Marie Cosette; Rice, Stephanie M.; Sloan, Jennifer L.; Mossayebi, Matthew H.; Venditti, Charles P.; Al‐Kouatly, Huda B. (2021-04). „Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria” (en). Molecular Genetics & Genomic Medicine 9 (4). DOI:10.1002/mgg3.1621. ISSN 2324-9269. PMC PMC8123733. PMID 33625768.

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 i dr.. (2019-01). „Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort” (en). Journal of Inherited Metabolic Disease 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. (2021-04). „Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria” (en). Molecular Genetics & Genomic Medicine 9 (4). DOI:10.1002/mgg3.1621. ISSN 2324-9269. PMC PMC8123733. PMID 33625768.

doi.wiley.com

Gregg, A. R.; Warman, A. W.; Thorburn, D. R.; O'Brien, W. E. (1998-06). „Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies” (en). Journal of Inherited Metabolic Disease 21 (4): 382–390. DOI:10.1023/A:1005302607897.

worldcat.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. (2016-02-27). „A New Approach for Fast Metabolic Diagnostics in CMAMMA”. JIMD Reports 30: 15–22. DOI:10.1007/8904_2016_531. ISSN 2192-8304. 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 i dr.. (2011-09). „Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria” (en). Nature Genetics 43 (9): 883–886. DOI:10.1038/ng.908. ISSN 1061-4036. PMC PMC3163731. PMID 21841779.
Wang, Ping; Shu, Jianbo; Gu, Chunyu; Yu, Xiaoli; Zheng, Jie; Zhang, Chunhua; Cai, Chunquan (2021-11-25). „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. PMID 34900860.
Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N.; Ha, K. C. H.; Majewski, J. i dr.. (2011-09-01). „Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype” (en). Journal of Medical Genetics 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 i dr.. (2019-01). „Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort” (en). Journal of Inherited Metabolic Disease 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. (2021-04). „Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria” (en). Molecular Genetics & Genomic Medicine 9 (4). DOI:10.1002/mgg3.1621. ISSN 2324-9269. PMC PMC8123733. PMID 33625768.