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pyruvate decarboxylase deficiency相关文献:
Primary Pyruvate Dehydrogenase Complex Deficiency Overview.
Ganetzky R, McCormick EM, Falk MJ.
2021 Jun 17. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:34138529
[Pyruvate dehydrogenase deficiency].
Pedersen S, Bliksrud YT, Selmer KK, Ramm-Pettersen A.
Tidsskr Nor Laegeforen. 2019 Oct 14;139(15). doi: 10.4045/tidsskr.18.0988. Print 2019 Oct 22.
PMID:31642628
Pyruvate dehydrogenase deficiency.
Brown GK, Otero LJ, LeGris M, Brown RM.
J Med Genet. 1994 Nov;31(11):875-9. doi: 10.1136/jmg.31.11.875.
PMID:7853374
Imaging brain glucose metabolism in vivo reveals propionate as a major anaplerotic substrate in pyruvate dehydrogenase deficiency.
Marin-Valencia I, Kocabas A, Rodriguez-Navas C, Miloushev VZ, González-Rodríguez M, Lees H, Henry KE, Vaynshteyn J, Longo V, Deh K, Eskandari R, Mamakhanyan A, Berishaj M, Keshari KR.
Cell Metab. 2024 Jun 4;36(6):1394-1410.e12. doi: 10.1016/j.cmet.2024.05.002.
PMID:38838644
Intermittent ataxia with pyruvate-decarboxylase deficiency.
Blass JP, Lonsdale D, Uhlendorf BW, Hom E.
Lancet. 1971 Jun 19;1(7712):1302. doi: 10.1016/s0140-6736(71)91822-8.
PMID:4104759
Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.
Fortin O, Christoffel K, Shoaib AB, Venkatesan C, Cilli K, Schroeder JW, Alves C, Ganetzky RD, Fraser JL.
Neurology. 2024 Aug 27;103(4):e209728. doi: 10.1212/WNL.0000000000209728. Epub 2024 Aug 5.
PMID:39102617
Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.
Dahl HH.
Am J Hum Genet. 1995 Mar;56(3):553-7.
PMID:7887408
Pyruvate dehydrogenase deficiency and epilepsy.
Prasad C, Rupar T, Prasad AN.
Brain Dev. 2011 Nov;33(10):856-65. doi: 10.1016/j.braindev.2011.08.003. Epub 2011 Sep 9.
PMID:21908116
Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency--An overview.
Bhandary S, Aguan K.
Epilepsy Res. 2015 Oct;116:40-52. doi: 10.1016/j.eplepsyres.2015.07.002. Epub 2015 Jul 8.
PMID:26354166
Pyruvate dehydrogenase E1 alpha deficiency.
Brown GK.
J Inherit Metab Dis. 1992;15(4):625-33. doi: 10.1007/BF01799619.
PMID:1528021
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