Your search returned 397 results.

Results
	81.	Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy. [electronic resource] by Briones, P López, M J De Meirleir, L Ribes, A Rodés, M Martinez-Costa, C Peris, M Lissens, W Producer: 19970320 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)
	82.	Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1 alpha subunit. [electronic resource] by Hansen, L L Brown, G K Brown, R M Dahl, H H Producer: 19930921 In: Human molecular genetics vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	83.	Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. [electronic resource] by Brown, Ruth M Head, Rosemary A Boubriak, Ivan I Leonard, James V Thomas, Neil H Brown, Garry K Producer: 20040908 In: Human genetics vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	84.	Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex. [electronic resource] by Birch-Machin, M A Shepherd, I M Solomon, M Yeaman, S J Gardner-Medwin, D Sherratt, H S Lindsay, J G Aynsley-Green, A Turnbull, D M Producer: 19881031 In: Journal of inherited metabolic disease vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	85.	Proton spectroscopy in patients with Leigh's disease and mitochondrial enzyme deficiency. [electronic resource] by Kruse, B Hanefeld, F Holzbach, U Wilichowski, E Christen, H J Merboldt, K D Hänicke, W Frahm, J Producer: 19941103 In: Developmental medicine and child neurology vol. 36 Availability: No items available. Save to lists Add to cart (remove)
	86.	MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency. [electronic resource] by Ah Mew, Nicholas Loewenstein, Johanna B Kadom, Nadja Lichter-Konecki, Uta Gropman, Andrea L Martin, Jodie M Vanderver, Adeline Producer: 20111108 In: Pediatric neurology vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	87.	Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis. [electronic resource] by Ferriero, Rosa Manco, Giuseppe Lamantea, Eleonora Nusco, Edoardo Ferrante, Maria I Sordino, Paolo Stacpoole, Peter W Lee, Brendan Zeviani, Massimo Brunetti-Pierri, Nicola Producer: 20130829 In: Science translational medicine vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	88.	The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency. [electronic resource] by Brown, G K Brown, R M Scholem, R D Kirby, D M Dahl, H H Producer: 19900531 In: Annals of the New York Academy of Sciences vol. 573 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	89.	Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients. [electronic resource] by Tajir, Mariam Arnoux, Jean Baptiste Boutron, Audrey Elalaoui, Siham Chafai De Lonlay, Pascale Sefiani, Abdelaziz Brivet, Michèle Producer: 20130621 In: European journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	90.	Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair. [electronic resource] by Horga, Alejandro Woodward, Catherine E Mills, Alberto Pareés, Isabel Hargreaves, Iain P Brown, Ruth M Bugiardini, Enrico Brooks, Tony Manole, Andreea Remzova, Elena Rahman, Shamima Reilly, Mary M Houlden, Henry Sweeney, Mary G Brown, Garry K Polke, James M Gago, Federico Parton, Matthew J Pitceathly, Robert D S Hanna, Michael G Producer: 20191206 In: Human genetics vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	91.	[E2 and E3 deficiency of pyruvate dehydrogenase complex]. [electronic resource] by Matuda, S Producer: 19900220 In: Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme vol. 33 Availability: No items available. Save to lists Add to cart (remove)
	92.	Anaesthesia and pyruvate dehydrogenase deficiency. [electronic resource] by Dierdorf, S F McNiece, W L Producer: 19830923 In: Canadian Anaesthetists' Society journal vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	93.	The pyruvate dehydrogenase complex as a target for gene therapy. [electronic resource] by Stacpoole, Peter W Owen, Renius Flotte, Terence R Producer: 20031119 In: Current gene therapy vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	94.	[Identification of a novel pathogenic mutation in PDHA1 gene for pyruvate dehydrogenase complex deficiency]. [electronic resource] by Wu, Mo-Ling Liu, Li Mao, Xiao-Jian Peng, Min-Zhi Liu, Hong-Sheng Sheng, Hui-Ying Cai, Yan-Na Mei, Hui-Fen Fan, Chun Huang, Yong-Lan Li, Xiu-Zhen Cheng, Jing Producer: 20160107 In: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics vol. 17 Availability: No items available. Save to lists Add to cart (remove)
	95.	In vitro activation of the pyruvate dehydrogenase complex in human muscle by a broad specificity protein phosphatase. [electronic resource] by Toshima, K Kuroda, Y Takeda, E Watanabe, T Ito, M Naito, E Miyao, M Nonaka, I Tamagawa, K Toyofuku, T Producer: 19850103 In: Journal of inherited metabolic disease vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	96.	Reconciling diabetes management and the ketogenic diet in a child with pyruvate dehydrogenase deficiency. [electronic resource] by Henwood, Maria J Thornton, Paul S Preis, Christina M Chee, Clare Grimberg, Adda Producer: 20061027 In: Journal of child neurology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	97.	Pyruvate dehydrogenase deficiency in a Sussex spaniel. [electronic resource] by Abramson, C J Platt, S R Shelton, G D Producer: 20040507 In: The Journal of small animal practice vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	98.	A technical surgery for refractory gastroparesis in a patient with a mitochondrial disorder. [electronic resource] by Tatekawa, Yukihiro Komuro, Hiroaki Producer: 20100818 In: Pediatric surgery international vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	99.	Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia. [electronic resource] by Byrd, D J Krohn, H P Winkler, L Steinborn, C Hadam, M Brodehl, J Hunneman, D H Producer: 19890825 In: European journal of pediatrics vol. 148 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	100.	Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia. [electronic resource] by Robinson, B H MacKay, N Petrova-Benedict, R Ozalp, I Coskun, T Stacpoole, P W Producer: 19900711 In: The Journal of clinical investigation vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

First
Previous
1
2
3
4
5
6
7
8
9
10
Next
Last

Refine your search

Availability

Authors

Topics

Languages

Your search returned 397 results.