首页 > 按专业查询名词 > 查询PubMed相关文献
名词信息
Pubmed相关的文献
methylmalonic aciduria相关文献:
The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China.
Hu S, Kong X.
Taiwan J Obstet Gynecol. 2022 Mar;61(2):290-298. doi: 10.1016/j.tjog.2022.02.017.
PMID:35361390
Methylmalonic acidemia: Current status and research priorities.
Zhou X, Cui Y, Han J.
Intractable Rare Dis Res. 2018 May;7(2):73-78. doi: 10.5582/irdr.2018.01026.
PMID:29862147
Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria.
Hu S, Mei S, Liu N, Kong X.
BMC Med Genet. 2018 Aug 29;19(1):154. doi: 10.1186/s12881-018-0666-x.
PMID:30157807
Isolated Methylmalonic Acidemia.
Manoli I, Sloan JL, Venditti CP.
2005 Aug 16 [updated 2022 Sep 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:20301409
Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria.
Chakrapani A, Stojanovic J, Vara R, De Nictolis F, Spada M, Dionisi-Vici C.
J Inherit Metab Dis. 2023 May;46(3):466-481. doi: 10.1002/jimd.12613. Epub 2023 Apr 24.
PMID:37067856
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
Monitoring Methylmalonic Aciduria by NMR Urinomics.
Nicolescu A, Blanita D, Boiciuc C, Hlistun V, Cristea M, Rotaru D, Pinzari L, Oglinda A, Stamati A, Tarcomnicu I, Tutulan-Cunita A, Stambouli D, Gladun S, Revenco N, Uşurelu N, Deleanu C.
Molecules. 2020 Nov 14;25(22):5312. doi: 10.3390/molecules25225312.
PMID:33202577
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.
PMID:25205257
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
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia.
An D, Schneller JL, Frassetto A, Liang S, Zhu X, Park JS, Theisen M, Hong SJ, Zhou J, Rajendran R, Levy B, Howell R, Besin G, Presnyak V, Sabnis S, Murphy-Benenato KE, Kumarasinghe ES, Salerno T, Mihai C, Lukacs CM, Chandler RJ, Guey LT, Venditti CP, Martini PGV.
Cell Rep. 2017 Dec 19;21(12):3548-3558. doi: 10.1016/j.celrep.2017.11.081.
PMID:29262333
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3