Prevalence of propionic acidemia in China.
Zhang Y, Peng C, Wang L, Chen S, Wang J, Tian Z, Wang C, Chen X, Zhu S, Zhang GF, Wang Y.
Orphanet J Rare Dis. 2023 Sep 9;18(1):281. doi: 10.1186/s13023-023-02898-w.
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A.
Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8.
Translational Pharmacokinetic/Pharmacodynamic Model for mRNA-3927, an Investigational Therapeutic for the Treatment of Propionic Acidemia.
Attarwala H, Lumley M, Liang M, Ivaturi V, Senn J.
Nucleic Acid Ther. 2023 Apr;33(2):141-147. doi: 10.1089/nat.2022.0036. Epub 2022 Dec 27.
Pathophysiological mechanisms of complications associated with propionic acidemia.
Marchuk H, Wang Y, Ladd ZA, Chen X, Zhang GF.
Pharmacol Ther. 2023 Sep;249:108501. doi: 10.1016/j.pharmthera.2023.108501. Epub 2023 Jul 22.
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.
Pillai NR, Stroup BM, Poliner A, Rossetti L, Rawls B, Shayota BJ, Soler-Alfonso C, Tunuguntala HP, Goss J, Craigen W, Scaglia F, Sutton VR, Himes RW, Burrage LC.
Mol Genet Metab. 2019 Dec;128(4):431-443. doi: 10.1016/j.ymgme.2019.11.001. Epub 2019 Nov 7.
New insights into the pathophysiology of methylmalonic acidemia.
Head PE, Meier JL, Venditti CP.
J Inherit Metab Dis. 2023 May;46(3):436-449. doi: 10.1002/jimd.12617.
Propionic acidemia consensus conference summary.
Chapman KA, Summar ML.
Mol Genet Metab. 2012 Jan;105(1):3-4. doi: 10.1016/j.ymgme.2011.08.007. Epub 2011 Aug 16.
Propionic acidemia in the Arab World.
Zayed H.
Gene. 2015 Jun 15;564(2):119-24. doi: 10.1016/j.gene.2015.04.019. Epub 2015 Apr 9.
Propionic acidemia in mice: Liver acyl-CoA levels and clinical course.
Zhao C, Wang Y, Yang H, Wang S, Tang MC, Cyr D, Parente F, Allard P, Waters P, Furtos A, Yang G, Mitchell GA.
Mol Genet Metab. 2022 Jan;135(1):47-55. doi: 10.1016/j.ymgme.2021.11.011. Epub 2021 Nov 27.
Neuropathological report of propionic acidemia.
Cao LX, Hu WZ, Dong W, Yang Q, Yin JH, Wang Y, Ni X, Huang Y.
Neuropathology. 2023 Apr;43(2):143-150. doi: 10.1111/neup.12861. Epub 2022 Sep 14.
