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Did you mean t pyruvate dehydrogenase deficiency (842 results)?
Primary Pyruvate Dehydrogenase Complex Deficiency Overview.
Ganetzky R, McCormick EM, Falk MJ. Ganetzky R, et al. 2021 Jun 17. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2021 Jun 17. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 34138529 Free Books & Documents. Review.
Describe the clinical characteristics of primary pyruvate dehydrogenase complex deficiency (PDCD). 2.. Review the genetic causes of primary PDCD. 3.. ...
Describe the clinical characteristics of primary pyruvate dehydrogenase complex deficiency (PDCD). 2.. Review th …
[Pyruvate dehydrogenase deficiency].
Pedersen S, Bliksrud YT, Selmer KK, Ramm-Pettersen A. Pedersen S, et al. Tidsskr Nor Laegeforen. 2019 Oct 14;139(15). doi: 10.4045/tidsskr.18.0988. Print 2019 Oct 22. Tidsskr Nor Laegeforen. 2019. PMID: 31642628 Free article. Review. Norwegian.
Pyruvate dehydrogenase deficiency is a rare mitochondrial disease leading to energy deficiency in the cells. ...
Pyruvate dehydrogenase deficiency is a rare mitochondrial disease leading to energy deficiency in the cel …
Pyruvate dehydrogenase deficiency.
Brown GK, Otero LJ, LeGris M, Brown RM. Brown GK, et al. J Med Genet. 1994 Nov;31(11):875-9. doi: 10.1136/jmg.31.11.875. J Med Genet. 1994. PMID: 7853374 Free PMC article. Review. No abstract available.
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. Ebertowska A, et al. Folia Morphol (Warsz). 2020;79(2):191-197. doi: 10.5603/FM.a2020.0020. Epub 2020 Feb 19. Folia Morphol (Warsz). 2020. PMID: 32073132 Free article. Review.
Mutation in genes encoding subunits of PDC leads to pyruvate dehydrogenase deficiency. Abnormalities in PDC activity result in severe metabolic and brain malformations. For better understanding the development and mechanism of pyruvate dehydrogenase …
Mutation in genes encoding subunits of PDC leads to pyruvate dehydrogenase deficiency. Abnormalities in PDC activity re …
Pyruvate dehydrogenase deficiency and epilepsy.
Prasad C, Rupar T, Prasad AN. Prasad C, et al. Brain Dev. 2011 Nov;33(10):856-65. doi: 10.1016/j.braindev.2011.08.003. Epub 2011 Sep 9. Brain Dev. 2011. PMID: 21908116 Review.
The pyruvate dehydrogenase complex (PDHc) is a mitochondrial matrix multienzyme complex that provides the link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the conversion of pyruvate into acetyl-CoA. ...In this mini-re …
The pyruvate dehydrogenase complex (PDHc) is a mitochondrial matrix multienzyme complex that provides the link b …
Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency--An overview.
Bhandary S, Aguan K. Bhandary S, et al. Epilepsy Res. 2015 Oct;116:40-52. doi: 10.1016/j.eplepsyres.2015.07.002. Epub 2015 Jul 8. Epilepsy Res. 2015. PMID: 26354166 Review.
The pyruvate dehydrogenase complex (PDHc) is a member of a family of multienzyme complexes that provides the link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the physiologically irreversible decarboxylation of various 2-oxoacid sub …
The pyruvate dehydrogenase complex (PDHc) is a member of a family of multienzyme complexes that provides the link betwe …
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. Karissa P, et al. Br J Biomed Sci. 2022 May 19;79:10382. doi: 10.3389/bjbs.2022.10382. eCollection 2022. Br J Biomed Sci. 2022. PMID: 35996497 Free PMC article. Review.
Pyruvate dehydrogenase (PDH) deficiency is caused by a number of pathogenic variants and the most common are found in the PDHA1 gene. ...It potentially leads to increased mortality in sufferers. Potential treatments for this disease include dichloroace …
Pyruvate dehydrogenase (PDH) deficiency is caused by a number of pathogenic variants and the most common are found in t …
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K, Smirnov D, Schlieben LD, Ganetzky R, Feichtinger RG, Jiang H, Fang F, Ebihara T, Murayama K, Ferrera G, Ardissone A, Rokicki D, Wesol-Kucharska D, Schröder S, Bauer P, Bertoli-Avella A, Østergaard E, Freisinger P, Janssen MCH, Wagner M, Abouyousef O, Alhaddad B, AlAbdi L, Alkuraya F, Alston CL, Baghdasaryan A, Barca D, Barić I, Bellusci M, Bevot A, Boltshauser E, Borggraefe I, Bouchereau J, Bruno C, Burnyte B, Calhoun A, Casas K, Coker M, Crushell E, De Lonlay P, Dionisi-Vici C, Distelmaier F, Falk MJ, Ferreira AC, Ferreira CR, Ficicioglu C, Gokçay GF, Häberle J, Heath O, Hellenschmidt A, Hoefele J, Hoffmann GF, Honzik T, Huemer M, Janeiro P, Karaa A, Kasapkara ÇS, Kern I, Klepper J, Klopstock T, Knerr I, Koch J, Krumina Z, Lamperti C, Lebigot E, Liu Z, Maier EM, Martinelli D, McFarland R, Mendelsohn B, Molnar MJ, Mundy H, Nassogne MC, Oliveira A, Õunap K, Panicucci C, Parikh S, Peters H, Pichard S, Plecko B, Ramadža DP, Repetto GM, Rivera I, Rodenburg RJ, Rossi A, Schiff M, Seidemann K, Smith WE, Soares S, Siri B, Steinbrucker K, Striano P, Sykut-Cegielska J, Tal G, Taylor RW, Tsiakas K, Kalkan Ucar S, Hoytema van Konijnenburg E, Woidy M, Yaplito-Lee J, Yildiz Y, Z… See abstract for full author list ➔ Merkevicius K, et al. Brain. 2026 Jul 7;149(7):2344-2362. doi: 10.1093/brain/awaf430. Brain. 2026. PMID: 41239557 Free PMC article.
This retrospective study on X-linked PDHA1-related pyruvate dehydrogenase complex (PDHc) deficiency combined a systematic literature review with a multicentre survey exploring genotypes, phenotypes and survival. ...The genotypic and phenotypic details …
This retrospective study on X-linked PDHA1-related pyruvate dehydrogenase complex (PDHc) deficiency combined a s …
Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition?
Maj MC, Cameron JM, Robinson BH. Maj MC, et al. Mol Cell Endocrinol. 2006 Apr 25;249(1-2):1-9. doi: 10.1016/j.mce.2006.02.003. Epub 2006 Mar 29. Mol Cell Endocrinol. 2006. PMID: 16574315 Review.
Pyruvate dehydrogenase phosphatase (PDP) is an enzyme which regulates the activity of the pyruvate dehydrogenase complex (PDHc). In the past, PDHc deficiency has been attributed to mutations in the complex itself and the regulatory …
Pyruvate dehydrogenase phosphatase (PDP) is an enzyme which regulates the activity of the pyruvate dehydrogenase …
1,814 results