TEJERO, Joanne; LAZURE, Felicia; GOMES, Ana P.. Methylmalonic acid in aging and disease. Trends in Endocrinology & Metabolism, 2024-03, roč. 35, čís. 3, s. 188–200. Dostupné online. DOI: 10.1016/j.tem.2023.11.001. (po anglicky)
CHANDLER, R.J.; VENDITTI, C.P.. Genetic and genomic systems to study methylmalonic acidemia. Molecular Genetics and Metabolism, 2005-09, roč. 86, čís. 1-2, s. 34–43. Dostupné online. DOI: 10.1016/j.ymgme.2005.07.020. (po anglicky)
BAUMGARTNER, Matthias R; HÖRSTER, Friederike; DIONISI-VICI, Carlo. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet Journal of Rare Diseases, 2014-12, roč. 9, čís. 1. Dostupné online. ISSN1750-1172. DOI: 10.1186/s13023-014-0130-8. (po anglicky)
DIOGO, Rui; RUA, Inês B; FERREIRA, Sara. Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features. Cureus, 2023-10-31. Dostupné online. ISSN2168-8184. DOI: 10.7759/cureus.48017. (po anglicky)
COLLADO, M. Sol; ARMSTRONG, Allison J.; OLSON, Matthew. Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes. Molecular Genetics and Metabolism, 2020-07, roč. 130, čís. 3, s. 183–196. Dostupné online. DOI: 10.1016/j.ymgme.2020.05.003. (po anglicky)
DE SAIN-VAN DER VELDEN, Monique G. M.; VAN DER HAM, Maria; JANS, Judith J.. A New Approach for Fast Metabolic Diagnostics in CMAMMA. Berlin, Heidelberg : Springer, 2016. DOI: 10.1007/8904_2016_531. Dostupné online.ISBN 978-3-662-53681-0. DOI:10.1007/8904_2016_531 S. 15–22. (po anglicky)
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)
Is Serum Methylmalonic Acid a Reliable Biomarker of Vitamin B12 Status in Children with Short Bowel Syndrome: A Case Series. The Journal of Pediatrics, 2018, s. 259–261. DOI: 10.1016/j.jpeds.2017.09.024. PMID 29129351. (po anglicky)
DE SAIN-VAN DER VELDEN, Monique G. M.; VAN DER HAM, Maria; JANS, Judith J.. A New Approach for Fast Metabolic Diagnostics in CMAMMA. Berlin, Heidelberg : Springer, 2016. DOI: 10.1007/8904_2016_531. Dostupné online.ISBN 978-3-662-53681-0. DOI:10.1007/8904_2016_531 S. 15–22. (po anglicky)
TEJERO, Joanne; LAZURE, Felicia; GOMES, Ana P.. Methylmalonic acid in aging and disease. Trends in Endocrinology & Metabolism, 2024-03, roč. 35, čís. 3, s. 188–200. Dostupné online. DOI: 10.1016/j.tem.2023.11.001. (po anglicky)
CHANDLER, R.J.; VENDITTI, C.P.. Genetic and genomic systems to study methylmalonic acidemia. Molecular Genetics and Metabolism, 2005-09, roč. 86, čís. 1-2, s. 34–43. Dostupné online. DOI: 10.1016/j.ymgme.2005.07.020. (po anglicky)
COLLADO, M. Sol; ARMSTRONG, Allison J.; OLSON, Matthew. Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes. Molecular Genetics and Metabolism, 2020-07, roč. 130, čís. 3, s. 183–196. Dostupné online. DOI: 10.1016/j.ymgme.2020.05.003. (po anglicky)
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)
Is Serum Methylmalonic Acid a Reliable Biomarker of Vitamin B12 Status in Children with Short Bowel Syndrome: A Case Series. The Journal of Pediatrics, 2018, s. 259–261. DOI: 10.1016/j.jpeds.2017.09.024. PMID 29129351. (po anglicky)
BAUMGARTNER, Matthias R; HÖRSTER, Friederike; DIONISI-VICI, Carlo. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet Journal of Rare Diseases, 2014-12, roč. 9, čís. 1. Dostupné online. ISSN1750-1172. DOI: 10.1186/s13023-014-0130-8. (po anglicky)
DIOGO, Rui; RUA, Inês B; FERREIRA, Sara. Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features. Cureus, 2023-10-31. Dostupné online. ISSN2168-8184. DOI: 10.7759/cureus.48017. (po anglicky)
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)
