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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, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
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
Comparison Between Dichloroacetate and Phenylbutyrate Treatment for Pyruvate Dehydrogenase Deficiency.
Karissa P, Simpson T, Dawson SP, Low TY, Tay SH, Nordin FDA, Zain SM, Lee PY, Pung YF.
Br J Biomed Sci. 2022 May 19;79:10382. doi: 10.3389/bjbs.2022.10382. eCollection 2022.
PMID:35996497
Pyruvate dehydrogenase deficiency: morphological and metabolic effects, creation of animal model to search for curative treatment.
Ebertowska A, Ludkiewicz B, Klejbor I, Melka N, Moryś J.
Folia Morphol (Warsz). 2020;79(2):191-197. doi: 10.5603/FM.a2020.0020. Epub 2020 Feb 19.
PMID:32073132
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
Lactic acidaemia.
Robinson BH, Sherwood WG.
J Inherit Metab Dis. 1984;7 Suppl 1:69-73. doi: 10.1007/BF03047378.
PMID:6434848
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
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