Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall, Kimberly A Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C Grünert, Stephanie Grünewald, Tomas Honzik, Begoña Merinero, Celia Pérez-Cerdá, Sabine Scholl-Bürgi, Flemming Skovby, Frits Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani: Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. In: Orphanet Journal of Rare Diseases. Band9, Nr.1, Dezember 2014, doi:10.1186/s13023-014-0130-8, PMID 25205257, PMC 4180313 (freier Volltext).
Caitlyn E. Bowman, Michael J. Wolfgang: Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism. In: Advances in Biological Regulation. Band71, Januar 2019, S.34–40, doi:10.1016/j.jbior.2018.09.002, PMID 30201289, PMC 6347522 (freier Volltext).
Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan, Matthew H. Mossayebi, Charles P. Venditti, Huda B. Al‐Kouatly: Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. In: Molecular Genetics & Genomic Medicine. Band9, Nr.4, April 2021, doi:10.1002/mgg3.1621, PMID 33625768, PMC 8123733 (freier Volltext).
nih.gov
ncbi.nlm.nih.gov
Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall, Kimberly A Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C Grünert, Stephanie Grünewald, Tomas Honzik, Begoña Merinero, Celia Pérez-Cerdá, Sabine Scholl-Bürgi, Flemming Skovby, Frits Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani: Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. In: Orphanet Journal of Rare Diseases. Band9, Nr.1, Dezember 2014, doi:10.1186/s13023-014-0130-8, PMID 25205257, PMC 4180313 (freier Volltext).
Caitlyn E. Bowman, Michael J. Wolfgang: Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism. In: Advances in Biological Regulation. Band71, Januar 2019, S.34–40, doi:10.1016/j.jbior.2018.09.002, PMID 30201289, PMC 6347522 (freier Volltext).
Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan, Matthew H. Mossayebi, Charles P. Venditti, Huda B. Al‐Kouatly: Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. In: Molecular Genetics & Genomic Medicine. Band9, Nr.4, April 2021, doi:10.1002/mgg3.1621, PMID 33625768, PMC 8123733 (freier Volltext).