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	181.	Revised assays for the investigation of congenital lactic acidosis using 14C keto acids, eliminating problems associated with spontaneous decarboxylation. [electronic resource] by Hyland, K Leonard, J V Producer: 19831220 In: Clinica chimica acta; international journal of clinical chemistry vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	182.	Glutamate and pyruvate dehydrogenase deficiency in spinocerebellar degeneration. [electronic resource] by Maruyama, S Yamaguchi, T Producer: 19841205 In: Advances in neurology vol. 41 Availability: No items available. Save to lists Add to cart (remove)
	183.	Late-onset presentation of pyruvate dehydrogenase deficiency. [electronic resource] by Mellick, George Price, Lee Boyle, Richard Producer: 20041028 In: Movement disorders : official journal of the Movement Disorder Society vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	184.	Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency. [electronic resource] by Quintana, E Gort, L Busquets, C Navarro-Sastre, A Lissens, W Moliner, S Lluch, M Vilaseca, M A De Meirleir, L Ribes, A Briones, P Producer: 20100914 In: Clinical genetics vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	185.	Fluorescent analysis of alpha-keto acids in serum and urine by high-performance liquid chromatography. [electronic resource] by Koike, K Koike, M Producer: 19841128 In: Analytical biochemistry vol. 141 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	186.	Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 alpha gene. [electronic resource] by Lissens, W Desguerre, I Benelli, C Marsac, C Fouque, F Haenggeli, C Ponsot, G Seneca, S Liebaers, I De Meirleir, L Producer: 19950629 In: Human molecular genetics vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	187.	[Mitochondrial disease]. [electronic resource] by Goto, Y Producer: 20010125 In: Ryoikibetsu shokogun shirizu no. 29 Pt 4 Availability: No items available. Save to lists Add to cart (remove)
	188.	Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death. [electronic resource] by Sperl, W Ruitenbeek, W Kerkhof, C M Sengers, R C Trijbels, J M Guggenbichler, J P Janssen, A J Bakkeren, J A Producer: 19900709 In: European journal of pediatrics vol. 149 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	189.	[Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene]. [electronic resource] by Blanco-Barca, O Gomez-Lado, C Rodrigo-Saez, E Curros-Novos, C Briones-Godino, P Eiris-Punal, J Castro-Gago, M Producer: 20070426 In: Revista de neurologia vol. 43 Availability: No items available. Save to lists Add to cart (remove)
	190.	Development of a novel observer reported outcome tool as the primary efficacy outcome measure for a rare disease randomized controlled trial. [electronic resource] by Stacpoole, Peter W Shuster, Jonathan Thompson, John L P Seamus Prather, Robert A Lawson, Lee Ann Zou, Baiming Buchsbaum, Richard Nixon, Sara Jo Producer: 20190129 In: Mitochondrion vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	191.	Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency. [electronic resource] by Hansen, L L Brown, G K Kirby, D M Dahl, H H Producer: 19911004 In: Journal of inherited metabolic disease vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	192.	Pyruvate dehydrogenase deficiency in spinocerebellar degenerations. [electronic resource] by Kark, R A Rodriguez-Budelli, M Producer: 19790523 In: Neurology vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	193.	A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency. [electronic resource] by Reynolds, S F Blass, J Producer: 19760823 In: Neurology vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	194.	[Adult Leigh syndrome. A rare differential diagnosis of central respiratory insufficiency]. [electronic resource] by Spranger, M Schwab, S Wiebel, M Becker, C M Producer: 19950518 In: Der Nervenarzt vol. 66 Availability: No items available. Save to lists Add to cart (remove)
	195.	Prenatal diagnosis of pyruvate dehydrogenase E1 alpha subunit deficiency. [electronic resource] by Brown, R M Brown, G K Producer: 19941110 In: Prenatal diagnosis vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	196.	Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. [electronic resource] by Matthews, P M Brown, R M Otero, L J Marchington, D R LeGris, M Howes, R Meadows, L S Shevell, M Scriver, C R Brown, G K Producer: 19940818 In: Brain : a journal of neurology vol. 117 ( Pt 3) Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	197.	Defect in the lipoyl-bearing protein X subunit of the pyruvate dehydrogenase complex in two patients with encephalomyelopathy. [electronic resource] by Marsac, C Stansbie, D Bonne, G Cousin, J Jehenson, P Benelli, C Leroux, J P Lindsay, G Producer: 19931222 In: The Journal of pediatrics vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	198.	A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency. [electronic resource] by Miné, Manuèle Brivet, Michèle Schiff, Manuel de Baulny, Hélène Ogier Chuzhanova, Nadia Marsac, Cécile Producer: 20061031 In: Molecular genetics and metabolism vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	199.	Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells. [electronic resource] by Pinheiro, Ana Silva, Maria João Pavlu-Pereira, Hana Florindo, Cristina Barroso, Madalena Marques, Bárbara Correia, Hildeberto Oliveira, Anabela Gaspar, Ana Tavares de Almeida, Isabel Rivera, Isabel Producer: 20170127 In: Gene vol. 591 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	200.	[Evaluation of a rapid diagnosis of congenital lactic acidemia by transported peripheral blood samples]. [electronic resource] by Kobashi, H Naito, E Kuroda, Y Producer: 19890801 In: No to hattatsu = Brain and development vol. 21 Availability: No items available. Save to lists Add to cart (remove)

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