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	281.	Investigation of enzyme defects in children with lactic acidosis. [electronic resource] by Merinero, B Pérez-Cerda, C Ugarte, M Producer: 19921223 In: Journal of inherited metabolic disease vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	282.	Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein. [electronic resource] by Ito, M Huq, A H Naito, E Saijo, T Takeda, E Kuroda, Y Producer: 19930408 In: Journal of inherited metabolic disease vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	283.	Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation. [electronic resource] by João Silva, Maria Pinheiro, Ana Eusébio, Filomena Gaspar, Ana Tavares de Almeida, Isabel Rivera, Isabel Producer: 20090428 In: European journal of pediatrics vol. 168 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	284.	An animal model of PDH deficiency using AAV8-siRNA vector-mediated knockdown of pyruvate dehydrogenase E1α. [electronic resource] by Ojano-Dirain, Carolyn Glushakova, Lyudmyla G Zhong, Li Zolotukhin, Sergei Muzyczka, Nicholas Srivastava, Arun Stacpoole, Peter W Producer: 20110127 In: Molecular genetics and metabolism vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	285.	Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency. [electronic resource] by Berendzen, Kristen Theriaque, Douglas W Shuster, Jonathan Stacpoole, Peter W Producer: 20060825 In: Mitochondrion vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	286.	Demonstration of an unstable variant of pyruvate dehydrogenase protein (E1) in cultured fibroblasts from a patient with congenital lactic acidemia. [electronic resource] by Huq, A H Ito, M Naito, E Saijo, T Takeda, E Kuroda, Y Producer: 19911017 In: Pediatric research vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	287.	Metabolic myopathies: evaluation by graded exercise testing. [electronic resource] by Elliot, D L Buist, N R Goldberg, L Kennaway, N G Powell, B R Kuehl, K S Producer: 19890612 In: Medicine vol. 68 Availability: No items available. Save to lists Add to cart (remove)
	288.	Polymorphisms in the human X-linked pyruvate dehydrogenase E1 alpha gene. [electronic resource] by Dahl, H H Hutchison, W M Guo, Z Forrest, S M Hansen, L L Producer: 19910702 In: Human genetics vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	289.	Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency. [electronic resource] by Jakkamsetti, Vikram Marin-Valencia, Isaac Ma, Qian Good, Levi B Terrill, Tyler Rajasekaran, Karthik Pichumani, Kumar Khemtong, Chalermchai Hooshyar, M Ali Sundarrajan, Chandrasekhar Patel, Mulchand S Bachoo, Robert M Malloy, Craig R Pascual, Juan M Producer: 20200221 In: Science translational medicine vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	290.	Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene. [electronic resource] by Dahl, H H Maragos, C Brown, R M Hansen, L L Brown, G K Producer: 19900904 In: American journal of human genetics vol. 47 Availability: No items available. Save to lists Add to cart (remove)
	291.	A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1. [electronic resource] by Brown, R M Head, R A Boubriak, I I Leonard, J V Brown, G K Producer: 20040126 In: Human mutation vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	292.	Folding and assembly defects of pyruvate dehydrogenase deficiency-related variants in the E1α subunit of the pyruvate dehydrogenase complex. [electronic resource] by Drakulic, Srdja Rai, Jay Petersen, Steen Vang Golas, Monika M Sander, Bjoern Producer: 20181029 In: Cellular and molecular life sciences : CMLS vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	293.	Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene. [electronic resource] by Lissens, W Vreken, P Barth, P G Wijburg, F A Ruitenbeek, W Wanders, R J Seneca, S Liebaers, I De Meirleir, L Producer: 19991117 In: European journal of pediatrics vol. 158 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	294.	Inhibition of pyruvate dehydrogenase complex (PDHC) by antipsychotic drugs. [electronic resource] by Sacks, W Esser, A H Sacks, S Producer: 19910328 In: Biological psychiatry vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	295.	Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency. [electronic resource] by Ostergaard, E Moller, L Birk Kalkanoglu-Sivri, H Serap Dursun, A Kibaek, M Thelle, T Christensen, E Duno, M Wibrand, F Producer: 20130805 In: Journal of inherited metabolic disease vol. 32 Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	296.	Closure of the larynx for intractable aspiration in neurologically impaired patients. [electronic resource] by Tatekawa, Yukihiro Hosino, Noriko Hori, Tetsuo Kaneko, Michio Producer: 20100812 In: Pediatric surgery international vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	297.	Remembering MUDPILES: A Case of Unexplained Metabolic Acidosis. [electronic resource] by Suntum, Tara Allen, Natalie Pagano, Samantha Jaworski, Margie L Duncan, Laura Lee, Clifton C Producer: 20180417 In: Hospital pediatrics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	298.	Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency. [electronic resource] by Cederbaum, S D Blass, J P Minkoff, N Brown, W J Cotton, M E Harris, S H Producer: 19760925 In: Pediatric research vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	299.	Ketonic diet in the management of pyruvate dehydrogenase deficiency. [electronic resource] by Falk, R E Cederbaum, S D Blass, J P Gibson, G E Kark, R A Carrel, R E Producer: 19770103 In: Pediatrics vol. 58 Availability: No items available. Save to lists Add to cart (remove)
	300.	Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit. [electronic resource] by Dahl, H H Brown, G K Producer: 19940706 In: Human mutation vol. 3 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.