Комбинирана малонова и метилмалонова ацидурия (Bulgarian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Комбинирана малонова и метилмалонова ацидурия" in Bulgarian language version.

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Alfares, A. et al. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype // Journal of Medical Genetics 48 (9). 2011. с. 602–605.

jpeds.com

Sniderman, L. C. Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program // The Journal of Pediatrics 134 (6). 1999. с. 675-680.

nih.gov

ncbi.nlm.nih.gov

Sloan, J. L. et al. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria // Nature Genetics 43 (9). 2011. с. 883–886.
Wang, P. et al. Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients // Frontiers in Pediatrics 9. 2021. с. 751895.
Witkowski, A. et al. Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis // Journal of Biological Chemistry 286 (39). 2011. с. 33729-33736.

sciencedirect.com

Wehbe, Z. et al. 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 1864 (11). 2019. с. 1629-1643.

wiley.com

onlinelibrary.wiley.com

Levtova, A. et al. Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort // Journal of Inherited Metabolic Disease 42 (1). 2019. с. 107-116.
Gregg, A. R. et al. Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies // Journal of Inherited Metabolic Disease 21 (4). 1998. с. 382-390.
Gabriel, M. C. et al. Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria // Molecular Genetics & Genomic Medicine 9 (4). 2021.