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名词信息
中 文 名:
丙酸血症
英 文 名:
propionic acidemia
中文又称:
中文曾称:
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所属专业:
内分泌科
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Pubmed相关的文献
propionic acidemia
相关文献:
Propionic Acidemia, Cardiomyopathies, and Arrhythmias.
Askin L, Polat E, Tanriverdi O.
J Clin Pract Res. 2024 Jan 9;46(1):11-18. doi: 10.14744/cpr.2023.30075. eCollection 2024 Jan.
PMID:41255903
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
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.
PMID:37482098
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.
PMID:37689673
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.
PMID:25865301
Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia.
Chandler RJ, Venditti CP.
J Inherit Metab Dis. 2024 Jan;47(1):63-79. doi: 10.1002/jimd.12665. Epub 2023 Aug 7.
PMID:37530705
Aminotransferase trends in propionic acidemia.
Silva MP, Raski CR, Charrow J, Baker JJ, Prada CE.
Am J Med Genet A. 2024 Sep;194(9):e63659. doi: 10.1002/ajmg.a.63659. Epub 2024 May 9.
PMID:38722054
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.
PMID:31757659
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
Reischl-Hajiabadi AT, Schnabel E, Gleich F, Mengler K, Lindner M, Burgard P, Posset R, Lommer-Steinhoff S, Grünert SC, Thimm E, Freisinger P, Hennermann JB, Krämer J, Gramer G, Lenz D, Christ S, Hörster F, Hoffmann GF, Garbade SF, Kölker S, Mütze U.
J Inherit Metab Dis. 2024 Jul;47(4):674-689. doi: 10.1002/jimd.12731. Epub 2024 Apr 2.
PMID:38563533
Natural history of propionic acidemia.
Pena L, Franks J, Chapman KA, Gropman A, Ah Mew N, Chakrapani A, Island E, MacLeod E, Matern D, Smith B, Stagni K, Sutton VR, Ueda K, Urv T, Venditti C, Enns GM, Summar ML.
Mol Genet Metab. 2012 Jan;105(1):5-9. doi: 10.1016/j.ymgme.2011.09.022. Epub 2011 Sep 22.
PMID:21986446
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