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acidaemia相关文献:
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.
PMID:33595124
Methylmalonic-acidaemia-hyperglycinaemia.
Halvorsen S, Stokke O, Eldjarn L.
Lancet. 1968 Apr 6;1(7545):756. doi: 10.1016/s0140-6736(68)92208-3.
PMID:4170994
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.
PMID:37078237
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.
PMID:38570682
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.
PMID:9506241
Lactic acidaemia.
Robinson BH, Sherwood WG.
J Inherit Metab Dis. 1984;7 Suppl 1:69-73. doi: 10.1007/BF03047378.
PMID:6434848
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.
PMID:30967213
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.
PMID:36906724
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.
PMID:22593918
Screening for vitamin B12 deficiency and other target diseases (homocystinuria, propionic acidaemia and methylmalonic aciduria) in extended newborn screening (ENS): IQWiG Reports - Commission No. S22-02.
Institute for Quality and Efficiency in Health Care (IQWiG).
Cologne (Germany): Institute for Quality and Efficiency in Health Care (IQWiG); 2024 Aug 22.
PMID:39348482
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