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名词信息
中 文 名:
戊二酸尿症
英 文 名:
glutaric aciduria
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
glutaric aciduria
相关文献:
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.
PMID:36221165
[Glutaric aciduria type 1 - a rare treatable neurometabolic disorder of lysine metabolism].
Teinert J, Boy N.
MMW Fortschr Med. 2025 Feb;167(Suppl 1):36-37. doi: 10.1007/s15006-025-4615-2.
PMID:39969732
Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy.
Hoffmann GF, Zschocke J.
J Inherit Metab Dis. 1999 Jun;22(4):381-91. doi: 10.1023/a:1005543904484.
PMID:10407775
Is it time to start to consider treating the liver in glutaric aciduria type 1?
Houten S, Coughlin CR 2nd.
J Inherit Metab Dis. 2023 Jul;46(4):539-540. doi: 10.1002/jimd.12623. Epub 2023 May 17.
PMID:37162343
Glutaric aciduria type I and kynurenine pathway metabolites: a modified hypothesis.
Varadkar S, Surtees R.
J Inherit Metab Dis. 2004;27(6):835-42. doi: 10.1023/B:BOLI.0000045767.42193.97.
PMID:15505390
Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains.
Leandro J, Bender A, Dodatko T, Argmann C, Yu C, Houten SM.
Mol Genet Metab. 2021 Feb;132(2):139-145. doi: 10.1016/j.ymgme.2021.01.004. Epub 2021 Jan 12.
PMID:33483254
Glutaric aciduria types I and II.
Gordon N.
Brain Dev. 2006 Apr;28(3):136-40. doi: 10.1016/j.braindev.2005.06.010. Epub 2005 Dec 20.
PMID:16368216
Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.
Yoldas Celik M, Canda E, Yazici H, Erdem F, Yuksel Yanbolu A, Atik Altınok Y, Eraslan C, Aykut A, Durmaz A, Habif S, Kalkan Ucar S, Coker M.
Eur J Pediatr. 2024 Dec 10;184(1):72. doi: 10.1007/s00431-024-05907-7.
PMID:39658645
Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy.
Wilson GN, de Chadarévian JP, Kaplan P, Loehr JP, Frerman FE, Goodman SI.
Am J Med Genet. 1989 Mar;32(3):395-401. doi: 10.1002/ajmg.1320320326.
PMID:2658591
Neonatal screening for glutaric aciduria type I: strategies to proceed.
Lindner M, Ho S, Fang-Hoffmann J, Hoffmann GF, Kölker S.
J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):378-82. doi: 10.1007/s10545-006-0284-1.
PMID:16763905
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