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	261.	A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene. [electronic resource] by Tulinius, Már Darin, Niklas Wiklund, Lars-Martin Holmberg, Eva Eriksson, Jan Erik Lissens, Willy De Meirleir, Linda Holme, Elisabeth Producer: 20050721 In: European journal of pediatrics vol. 164 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	262.	Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts. [electronic resource] by Sheu, K F Hu, C W Utter, M F Producer: 19810709 In: The Journal of clinical investigation vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	263.	LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. [electronic resource] by Stowe, Robert C Sun, Qin Elsea, Sarah H Scaglia, Fernando Producer: 20190520 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	264.	Mutation of the E1 alpha subunit of the pyruvate dehydrogenase complex, in relation to heterogeneity. [electronic resource] by Kitano, A Endo, F Matsuda, I Miyabayashi, S Dahl, H H Producer: 19890901 In: Journal of inherited metabolic disease vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	265.	Sensitive and fast mutation detection by solid phase chemical cleavage. [electronic resource] by Hansen, L L Justesen, J Kruse, T A Producer: 19961016 In: Human mutation vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	266.	Immunocapture and microplate-based activity measurement of mammalian pyruvate dehydrogenase complex. [electronic resource] by Lib, Margarita Rodriguez-Mari, Adriana Marusich, Michael F Capaldi, Roderick A Producer: 20031015 In: Analytical biochemistry vol. 314 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	267.	Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet. [electronic resource] by Wijburg, F A Barth, P G Bindoff, L A Birch-Machin, M A van der Blij, J F Ruitenbeek, W Turnbull, D M Schutgens, R B Producer: 19920902 In: Neuropediatrics vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	268.	Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children. [electronic resource] by Stacpoole, Peter W Kerr, Douglas S Barnes, Carie Bunch, S Terri Carney, Paul R Fennell, Eileen M Felitsyn, Natalia M Gilmore, Robin L Greer, Melvin Henderson, George N Hutson, Alan D Neiberger, Richard E O'Brien, Ralph G Perkins, Leigh Ann Quisling, Ronald G Shroads, Albert L Shuster, Jonathan J Silverstein, Janet H Theriaque, Douglas W Valenstein, Edward Producer: 20060523 In: Pediatrics vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	269.	Mitochondrial myopathies. [electronic resource] by DiMauro, S Bonilla, E Zeviani, M Nakagawa, M DeVivo, D C Producer: 19850826 In: Annals of neurology vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	270.	Characterization of a missense mutation at histidine-44 in a pyruvate dehydrogenase-deficient patient. [electronic resource] by Jacobia, Scott J Korotchkina, Lioubov G Patel, Mulchand S Producer: 20020307 In: Biochimica et biophysica acta vol. 1586 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	271.	Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency. [electronic resource] by Rubio-Gozalbo, M E Heerschap, A Trijbels, J M De Meirleir, L Thijssen, H O Smeitink, J A Producer: 19990913 In: Magnetic resonance imaging vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	272.	[Defects of pyruvate metabolism in cultured lymphoblastoid cells of 20 patients with Leigh syndrome]. [electronic resource] by Naito, E Ito, M Yokota, I Saijo, T Matsuda, J Osaka, H Kimura, S Kuroda, Y Producer: 19970203 In: No to hattatsu = Brain and development vol. 28 Availability: No items available. Save to lists Add to cart (remove)
	273.	Determination of [U-13C]glucose turnover into various metabolite pools for the differential diagnosis of lactic acidemias. [electronic resource] by Kassel, D B Glerum, M Robinson, B H Sweeley, C C Producer: 19890803 In: Analytical biochemistry vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	274.	Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene. [electronic resource] by Naito, E Ito, M Yokota, I Matsuda, J Yara, A Kuroda, Y Producer: 19950105 In: Human molecular genetics vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	275.	Structure, function and an inherited defect of 2-oxo acid dehydrogenase multienzyme complexes. [electronic resource] by Koike, M Koike, K Hiraoka, T Producer: 19810613 In: Biochemical Society transactions vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	276.	Isolation, characterization and chromosomal localization of cDNA clones for the E1 beta subunit of the pyruvate dehydrogenase complex. [electronic resource] by Chun, K Mackay, N Willard, H F Robinson, B H Producer: 19910220 In: European journal of biochemistry vol. 194 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	277.	The inherited ataxias. [electronic resource] by Stumpf, D A Producer: 19850614 In: Neurologic clinics vol. 3 Availability: No items available. Save to lists Add to cart (remove)
	278.	Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency. [electronic resource] by Nizon, Mathilde Boutron, Audrey Boddaert, Nathalie Slama, Abdelhamid Delpech, Hélène Sardet, Claude Brassier, Anaïs Habarou, Florence Delahodde, Agnès Correia, Isabelle Ottolenghi, Chris de Lonlay, Pascale Producer: 20141219 In: Mitochondrion vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	279.	Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia. [electronic resource] by Naito, E Ito, M Takeda, E Yokota, I Yoshijima, S Kuroda, Y Producer: 19950202 In: Pediatric research vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	280.	Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift. [electronic resource] by Endo, H Hasegawa, K Narisawa, K Tada, K Kagawa, Y Ohta, S Producer: 19890321 In: American journal of human genetics vol. 44 Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 397 results.