Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR.
J Inherit Metab Dis. 2021 May;44(3):566-592. doi: 10.1002/jimd.12370. Epub 2021 Mar 9.
Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.
Koeberl D, Schulze A, Sondheimer N, Lipshutz GS, Geberhiwot T, Li L, Saini R, Luo J, Sikirica V, Jin L, Liang M, Leuchars M, Grunewald S.
Nature. 2024 Apr;628(8009):872-877. doi: 10.1038/s41586-024-07266-7. Epub 2024 Apr 3.
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.
Methylmalonic-acidaemia-hyperglycinaemia.
Halvorsen S, Stokke O, Eldjarn L.
Lancet. 1968 Apr 6;1(7545):756. doi: 10.1016/s0140-6736(68)92208-3.
Guidelines for the treatment of acidaemia with THAM.
Nahas GG, Sutin KM, Fermon C, Streat S, Wiklund L, Wahlander S, Yellin P, Brasch H, Kanchuger M, Capan L, Manne J, Helwig H, Gaab M, Pfenninger E, Wetterberg T, Holmdahl M, Turndorf H.
Drugs. 1998 Feb;55(2):191-224. doi: 10.2165/00003495-199855020-00003.
Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.
Guo Z, Gong A, Liu S, Liang H.
Mol Genet Genomics. 2023 May;298(3):603-614. doi: 10.1007/s00438-023-02002-8. Epub 2023 Mar 11.
Propionic Acidemia.
Galarreta Aima CI, Shchelochkov OA, Jerves Serrano T, Venditti CP.
2012 May 17 [updated 2024 Sep 26]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Sodium bicarbonate for severe metabolic acidaemia.
Baicus C.
Lancet. 2019 Apr 6;393(10179):1413-1414. doi: 10.1016/S0140-6736(19)30312-5. Epub 2019 Apr 4.
Sodium bicarbonate for severe metabolic acidaemia.
Magder S, Samoukovic G.
Lancet. 2019 Apr 6;393(10179):1414. doi: 10.1016/S0140-6736(19)30305-8. Epub 2019 Apr 4.
The management and outcome of propionic and methylmalonic acidaemia.
Leonard JV.
J Inherit Metab Dis. 1995;18(4):430-4. doi: 10.1007/BF00710054.
