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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
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
Lactic acidaemia.
Robinson BH, Sherwood WG.
J Inherit Metab Dis. 1984;7 Suppl 1:69-73. doi: 10.1007/BF03047378.
PMID:6434848
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
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
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
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
The management and outcome of propionic and methylmalonic acidaemia.
Leonard JV.
J Inherit Metab Dis. 1995;18(4):430-4. doi: 10.1007/BF00710054.
PMID:7494401
Stable isotope studies in propionic and methylmalonic acidaemia.
Leonard JV.
Eur J Pediatr. 1997 Aug;156 Suppl 1:S67-9. doi: 10.1007/pl00014275.
PMID:9266219
"Does short-term variation in fetal heart rate predict fetal acidaemia?" A systematic review and meta-analysis.
Kapaya H, Jacques R, Rahaim N, Anumba D.
J Matern Fetal Neonatal Med. 2016 Dec;29(24):4070-7. doi: 10.3109/14767058.2016.1156670. Epub 2016 Mar 21.
PMID:26902464
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