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Kombinovaná malonová a methylmalonová acidurie (Czech Wikipedia)

Analysis of information sources in references of the Wikipedia article "Kombinovaná malonová a methylmalonová acidurie" in Czech language version.

refsWebsite
Global rank Czech rank
11doi.org
2nd place
4th place
5worldcat.org
5th place
3rd place
4nih.gov
4th place
8th place
3elsevier.com
610th place
203rd place
3wiley.com
222nd place
83rd place
1nature.com
234th place
72nd place
1frontiersin.org
4,679th place
990th place
1bmj.com
1,226th place
800th place

bmj.com

jmg.bmj.com

  • ALFARES, A.; NUNEZ, L. D.; AL-THIHLI, K. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. Journal of Medical Genetics. 2011-09-01, roč. 48, čís. 9, s. 602–605. Dostupné online. ISSN 0022-2593. DOI 10.1136/jmedgenet-2011-100230. (anglicky) 

doi.org

dx.doi.org

  • DE SAIN-VAN DER VELDEN, Monique G. M.; VAN DER HAM, Maria; JANS, Judith J. A New Approach for Fast Metabolic Diagnostics in CMAMMA. Příprava vydání Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters. Berlin, Heidelberg: Springer Dostupné online. ISBN 978-3-662-53681-0. DOI 10.1007/8904_2016_531. S. 15–22. (anglicky) DOI: 10.1007/8904_2016_531. 
  • SLOAN, Jennifer L.; JOHNSTON, Jennifer J.; MANOLI, Irini. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics. 2011-09, roč. 43, čís. 9, s. 883–886. Dostupné online. ISSN 1546-1718. DOI 10.1038/ng.908. PMID 21841779. (anglicky) 
  • SNIDERMAN, Lisa C.; LAMBERT, Marie; GIGUÈRE, Robert. Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. The Journal of Pediatrics. 1999-06, roč. 134, čís. 6, s. 675–680. Dostupné online. DOI 10.1016/S0022-3476(99)70280-5. (anglicky) 
  • WANG, Ping; SHU, Jianbo; GU, Chunyu. Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients. Frontiers in Pediatrics. 2021-11-25, roč. 9, s. 751895. Dostupné online. ISSN 2296-2360. DOI 10.3389/fped.2021.751895. PMID 34900860. 
  • ALFARES, A.; NUNEZ, L. D.; AL-THIHLI, K. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. Journal of Medical Genetics. 2011-09-01, roč. 48, čís. 9, s. 602–605. Dostupné online. ISSN 0022-2593. DOI 10.1136/jmedgenet-2011-100230. (anglicky) 
  • WEHBE, Zeinab; BEHRINGER, Sidney; ALATIBI, Khaled. 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, roč. 1864, čís. 11, s. 1629–1643. Dostupné online. DOI 10.1016/j.bbalip.2019.07.012. (anglicky) 
  • LEVTOVA, Alina; WATERS, Paula J.; BUHAS, Daniela. Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Journal of Inherited Metabolic Disease. 2019-01, roč. 42, čís. 1, s. 107–116. Dostupné online. ISSN 0141-8955. DOI 10.1002/jimd.12032. (anglicky) 
  • GREGG, A. R.; WARMAN, A. W.; THORBURN, D. R. Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies. Journal of Inherited Metabolic Disease. 1998-06, roč. 21, čís. 4, s. 382–390. Dostupné online. DOI 10.1023/A:1005302607897. (anglicky) 
  • WITKOWSKI, Andrzej; THWEATT, Jennifer; SMITH, Stuart. 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, roč. 286, čís. 39, s. 33729–33736. Dostupné online. DOI 10.1074/jbc.M111.291591. PMID 21846720. (anglicky) 
  • GABRIEL, Marie Cosette; RICE, Stephanie M.; SLOAN, Jennifer L. Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Molecular Genetics & Genomic Medicine. 2021-04, roč. 9, čís. 4. Dostupné online. ISSN 2324-9269. DOI 10.1002/mgg3.1621. PMID 33625768. (anglicky) 

doi.org

  • DE SAIN-VAN DER VELDEN, Monique G. M.; VAN DER HAM, Maria; JANS, Judith J. A New Approach for Fast Metabolic Diagnostics in CMAMMA. Příprava vydání Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters. Berlin, Heidelberg: Springer Dostupné online. ISBN 978-3-662-53681-0. DOI 10.1007/8904_2016_531. S. 15–22. (anglicky) DOI: 10.1007/8904_2016_531. 

elsevier.com

linkinghub.elsevier.com

  • SNIDERMAN, Lisa C.; LAMBERT, Marie; GIGUÈRE, Robert. Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. The Journal of Pediatrics. 1999-06, roč. 134, čís. 6, s. 675–680. Dostupné online. DOI 10.1016/S0022-3476(99)70280-5. (anglicky) 
  • WEHBE, Zeinab; BEHRINGER, Sidney; ALATIBI, Khaled. 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, roč. 1864, čís. 11, s. 1629–1643. Dostupné online. DOI 10.1016/j.bbalip.2019.07.012. (anglicky) 
  • WITKOWSKI, Andrzej; THWEATT, Jennifer; SMITH, Stuart. 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, roč. 286, čís. 39, s. 33729–33736. Dostupné online. DOI 10.1074/jbc.M111.291591. PMID 21846720. (anglicky) 

frontiersin.org

nature.com

  • SLOAN, Jennifer L.; JOHNSTON, Jennifer J.; MANOLI, Irini. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics. 2011-09, roč. 43, čís. 9, s. 883–886. Dostupné online. ISSN 1546-1718. DOI 10.1038/ng.908. PMID 21841779. (anglicky) 

nih.gov

ncbi.nlm.nih.gov

  • SLOAN, Jennifer L.; JOHNSTON, Jennifer J.; MANOLI, Irini. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics. 2011-09, roč. 43, čís. 9, s. 883–886. Dostupné online. ISSN 1546-1718. DOI 10.1038/ng.908. PMID 21841779. (anglicky) 
  • WANG, Ping; SHU, Jianbo; GU, Chunyu. Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients. Frontiers in Pediatrics. 2021-11-25, roč. 9, s. 751895. Dostupné online. ISSN 2296-2360. DOI 10.3389/fped.2021.751895. PMID 34900860. 
  • WITKOWSKI, Andrzej; THWEATT, Jennifer; SMITH, Stuart. 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, roč. 286, čís. 39, s. 33729–33736. Dostupné online. DOI 10.1074/jbc.M111.291591. PMID 21846720. (anglicky) 
  • GABRIEL, Marie Cosette; RICE, Stephanie M.; SLOAN, Jennifer L. Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Molecular Genetics & Genomic Medicine. 2021-04, roč. 9, čís. 4. Dostupné online. ISSN 2324-9269. DOI 10.1002/mgg3.1621. PMID 33625768. (anglicky) 

wiley.com

onlinelibrary.wiley.com

  • LEVTOVA, Alina; WATERS, Paula J.; BUHAS, Daniela. Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Journal of Inherited Metabolic Disease. 2019-01, roč. 42, čís. 1, s. 107–116. Dostupné online. ISSN 0141-8955. DOI 10.1002/jimd.12032. (anglicky) 
  • GABRIEL, Marie Cosette; RICE, Stephanie M.; SLOAN, Jennifer L. Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Molecular Genetics & Genomic Medicine. 2021-04, roč. 9, čís. 4. Dostupné online. ISSN 2324-9269. DOI 10.1002/mgg3.1621. PMID 33625768. (anglicky) 

doi.wiley.com

  • GREGG, A. R.; WARMAN, A. W.; THORBURN, D. R. Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies. Journal of Inherited Metabolic Disease. 1998-06, roč. 21, čís. 4, s. 382–390. Dostupné online. DOI 10.1023/A:1005302607897. (anglicky) 

worldcat.org

  • SLOAN, Jennifer L.; JOHNSTON, Jennifer J.; MANOLI, Irini. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics. 2011-09, roč. 43, čís. 9, s. 883–886. Dostupné online. ISSN 1546-1718. DOI 10.1038/ng.908. PMID 21841779. (anglicky) 
  • WANG, Ping; SHU, Jianbo; GU, Chunyu. Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients. Frontiers in Pediatrics. 2021-11-25, roč. 9, s. 751895. Dostupné online. ISSN 2296-2360. DOI 10.3389/fped.2021.751895. PMID 34900860. 
  • ALFARES, A.; NUNEZ, L. D.; AL-THIHLI, K. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. Journal of Medical Genetics. 2011-09-01, roč. 48, čís. 9, s. 602–605. Dostupné online. ISSN 0022-2593. DOI 10.1136/jmedgenet-2011-100230. (anglicky) 
  • LEVTOVA, Alina; WATERS, Paula J.; BUHAS, Daniela. Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Journal of Inherited Metabolic Disease. 2019-01, roč. 42, čís. 1, s. 107–116. Dostupné online. ISSN 0141-8955. DOI 10.1002/jimd.12032. (anglicky) 
  • GABRIEL, Marie Cosette; RICE, Stephanie M.; SLOAN, Jennifer L. Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Molecular Genetics & Genomic Medicine. 2021-04, roč. 9, čís. 4. Dostupné online. ISSN 2324-9269. DOI 10.1002/mgg3.1621. PMID 33625768. (anglicky)