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. ISSN0022-2593. DOI: 10.1136/jmedgenet-2011-100230. (po 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. Zväzok 30. Berlin, Heidelberg : Springer Berlin Heidelberg, 2016. DOI: 10.1007/8904_2016_531. Dostupné online.ISBN 978-3-662-53680-3. DOI:10.1007/8904_2016_531 S. 15–22.
NIH INTRAMURAL SEQUENCING CENTER GROUP; SLOAN, Jennifer L; JOHNSTON, Jennifer J. 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. ISSN1061-4036. DOI: 10.1038/ng.908. (po 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. (po 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. ISSN2296-2360. DOI: 10.3389/fped.2021.751895.
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. ISSN0022-2593. DOI: 10.1136/jmedgenet-2011-100230. (po 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. (po 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. ISSN0141-8955. DOI: 10.1002/jimd.12032. (po 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. (po 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. (po 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. ISSN2324-9269. DOI: 10.1002/mgg3.1621. (po anglicky)
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. (po 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. (po 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. (po anglicky)
frontiersin.org
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. ISSN2296-2360. DOI: 10.3389/fped.2021.751895.
nature.com
NIH INTRAMURAL SEQUENCING CENTER GROUP; SLOAN, Jennifer L; JOHNSTON, Jennifer J. 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. ISSN1061-4036. DOI: 10.1038/ng.908. (po anglicky)
springer.com
link.springer.com
DE SAIN-VAN DER VELDEN, Monique G. M.; VAN DER HAM, Maria; JANS, Judith J.. A New Approach for Fast Metabolic Diagnostics in CMAMMA. Zväzok 30. Berlin, Heidelberg : Springer Berlin Heidelberg, 2016. DOI: 10.1007/8904_2016_531. Dostupné online.ISBN 978-3-662-53680-3. DOI:10.1007/8904_2016_531 S. 15–22.
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. ISSN0141-8955. DOI: 10.1002/jimd.12032. (po 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. ISSN2324-9269. DOI: 10.1002/mgg3.1621. (po 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. (po anglicky)
worldcat.org
NIH INTRAMURAL SEQUENCING CENTER GROUP; SLOAN, Jennifer L; JOHNSTON, Jennifer J. 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. ISSN1061-4036. DOI: 10.1038/ng.908. (po 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. ISSN2296-2360. DOI: 10.3389/fped.2021.751895.
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. ISSN0022-2593. DOI: 10.1136/jmedgenet-2011-100230. (po 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. ISSN0141-8955. DOI: 10.1002/jimd.12032. (po 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. ISSN2324-9269. DOI: 10.1002/mgg3.1621. (po anglicky)
