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名词信息
中 文 名:
戊二酸血症
英 文 名:
glutaricacidemia
中文又称:
中文曾称:
名词来源:
所属专业:
内分泌科
所属类别:
临床检查名词
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Pubmed相关的文献
glutaricacidemia
相关文献:
Glutaric Acidemia, Pathogenesis and Nutritional Therapy.
Li Q, Yang C, Feng L, Zhao Y, Su Y, Liu H, Men H, Huang Y, Körner H, Wang X.
Front Nutr. 2021 Dec 15;8:704984. doi: 10.3389/fnut.2021.704984. eCollection 2021.
PMID:34977106
Glutaric Acidemia Type 1.
Larson A, Goodman S.
2019 Sep 19. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews
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[Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:31536184
Glutaric acidemia type 1.
Hedlund GL, Longo N, Pasquali M.
Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):86-94. doi: 10.1002/ajmg.c.30088.
PMID:16602100
Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.
Barroso M, Gertzen M, Puchwein-Schwepcke AF, Preisler H, Sturm A, Reiss DD, Danecka MK, Muntau AC, Gersting SW.
Int J Mol Sci. 2023 Aug 24;24(17):13158. doi: 10.3390/ijms241713158.
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Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S.
J Inherit Metab Dis. 2023 May;46(3):482-519. doi: 10.1002/jimd.12566. Epub 2022 Nov 17.
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Glutaric Acidemia Type 1: Diagnosis, Clinical features, and Outcome in a Portuguese Cohort.
Pinto PL, Câmara B, Florindo C, Loureiro RS, Jardim I, Sousa C, Vilarinho L, Janeiro P, Tavares de Almeida I, Gaspar A.
Endocr Metab Immune Disord Drug Targets. 2023 Sep 14. doi: 10.2174/1871530323666230914122946. Online ahead of print.
PMID:37711119
Pathogenesis of brain damage in glutaric acidemia type I: Lessons from the genetic mice model.
Wajner M, Amaral AU, Leipnitz G, Seminotti B.
Int J Dev Neurosci. 2019 Nov;78:215-221. doi: 10.1016/j.ijdevneu.2019.05.005. Epub 2019 May 21.
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Exploring genotype-phenotype correlations in glutaric aciduria type 1.
Schuurmans IME, Dimitrov B, Schröter J, Ribes A, de la Fuente RP, Zamora B, van Karnebeek CDM, Kölker S, Garanto A.
J Inherit Metab Dis. 2023 May;46(3):371-390. doi: 10.1002/jimd.12608. Epub 2023 Apr 16.
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Orthopaedic manifestations of glutaric acidemia Type 1.
Imerci A, Strauss KA, Oleas-Santillan GF, Miller F.
J Child Orthop. 2020 Oct 1;14(5):473-479. doi: 10.1302/1863-2548.14.200059.
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Prenatal diagnosis of glutaric acidemia type 2 with the use of exome sequencing - an up-to-date review and new case report.
Kucinska-Chahwan AM, Roszkowski T, Geremek M, Paczkowska MA, Ciebiera M, Bijok J, Massalska D, Panek G, Siemion K, Nowakowska BA.
Ginekol Pol. 2021;92(1):51-56. doi: 10.5603/GP.a2020.0190. Epub 2021 Jan 15.
PMID:33448012
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