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	301.	An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein. [electronic resource] by Takakubo, F Cartwright, P Hoogenraad, N Thorburn, D R Collins, F Lithgow, T Dahl, H H Producer: 19951103 In: American journal of human genetics vol. 57 Availability: No items available. Save to lists Add to cart (remove)
	302.	Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency. [electronic resource] by Di Rocco, M Lamba, L D Minniti, G Caruso, U Naito, E Producer: 20000928 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	303.	A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency. [electronic resource] by Wexler, I D Hemalatha, S G Liu, T C Berry, S A Kerr, D S Patel, M S Producer: 19920922 In: Pediatric research vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	304.	Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit. [electronic resource] by Cameron, Jessie M Levandovskiy, Valeriy Mackay, Neviana Tein, Ingrid Robinson, Brian H Producer: 20050202 In: American journal of medical genetics. Part A vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	305.	Evaluation of long-term treatment of children with congenital lactic acidosis with dichloroacetate. [electronic resource] by Stacpoole, Peter W Gilbert, Lesa R Neiberger, Richard E Carney, Paul R Valenstein, Edward Theriaque, Douglas W Shuster, Jonathan J Producer: 20080604 In: Pediatrics vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	306.	Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome. [electronic resource] by Vazquez-Memije, M E Shanske, S Santorelli, F M Kranz-Eble, P Davidson, E DeVivo, D C DiMauro, S Producer: 19961017 In: Journal of inherited metabolic disease vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	307.	Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency. [electronic resource] by Marsac, C Benelli, C Desguerre, I Diry, M Fouque, F De Meirleir, L Ponsot, G Seneca, S Poggi, F Saudubray, J M Zabot, M T Fontan, D Lissens, W Producer: 19970708 In: Human genetics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	308.	Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging. [electronic resource] by Robinson, J N Norwitz, E R Mulkern, R Brown, S A Rybicki, F Tempany, C M Producer: 20020301 In: Prenatal diagnosis vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	309.	Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit. [electronic resource] by De Meirleir, L Lissens, W Vamos, E Liebaers, I Producer: 19920427 In: Human genetics vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	310.	Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency. [electronic resource] by Okajima, K Korotchkina, L G Prasad, C Rupar, T Phillips, J A Ficicioglu, C Hertecant, J Patel, M S Kerr, D S Producer: 20080421 In: Molecular genetics and metabolism vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	311.	Association of cerebral dysgenesis and lactic acidemia with X-linked PDH E1 alpha subunit mutations in females. [electronic resource] by Otero, L J Brown, G K Silver, K Arnold, D L Matthews, P M Producer: 19960924 In: Pediatric neurology vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	312.	Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility. [electronic resource] by Giribaldi, Gaia Doria-Lamba, Laura Biancheri, Roberta Severino, Mariasavina Rossi, Andrea Santorelli, Filippo M Schiaffino, Cristina Caruso, Ubaldo Piemonte, Fiorella Bruno, Claudio Producer: 20120521 In: Developmental medicine and child neurology vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	313.	Rapid diagnosis of pyruvate and ketoglutarate dehydrogenase deficiencies in platelet-enriched preparations from blood. [electronic resource] by Blass, J P Cederbaum, S D Kark, R A Producer: 19770512 In: Clinica chimica acta; international journal of clinical chemistry vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	314.	Role of dichloroacetate in the treatment of genetic mitochondrial diseases. [electronic resource] by Stacpoole, Peter W Kurtz, Tracie L Han, Zongchao Langaee, Taimour Producer: 20081229 In: Advanced drug delivery reviews vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	315.	A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons. [electronic resource] by Ridout, C K Keighley, P Krywawych, S Brown, R M Brown, G K Producer: 20080402 In: Human mutation vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	316.	Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts. [electronic resource] by Robinson, B H Petrova-Benedict, R Buncic, J R Wallace, D C Producer: 19921211 In: Biochemical medicine and metabolic biology vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	317.	[Differential diagnosis of the symptom of lactic acidosis in childhood]. [electronic resource] by Koepp, P Producer: 19840906 In: Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde vol. 132 Availability: No items available. Save to lists Add to cart (remove)
	318.	Problems in the congenital lactic acidoses. [electronic resource] by Leonard, J V Producer: 19820719 In: Ciba Foundation symposium vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	319.	Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency. [electronic resource] by Naito, E Ito, M Yokota, I Saijo, T Chen, S Maehara, M Kuroda, Y Producer: 20000119 In: Journal of the neurological sciences vol. 171 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	320.	Reduced Ca2+ uptake by mitochondria in pyruvate dehydrogenase-deficient human diploid fibroblasts. [electronic resource] by Padua, R A Baron, K T Thyagarajan, B Campbell, C Thayer, S A Producer: 19980424 In: The American journal of physiology vol. 274 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 397 results.