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	241.	A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element. [electronic resource] by Miné, Manuèle Chen, Jian-Min Brivet, Michèle Desguerre, Isabelle Marchant, Dominique de Lonlay, Pascale Bernard, Aral Férec, Claude Abitbol, Marc Ricquier, Daniel Marsac, Cécile Producer: 20070228 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	242.	Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy. [electronic resource] by Federico, A Dotti, M T Fabrizi, G M Palmeri, S Massimo, L Robinson, B H Malandrini, A Guazzi, G C Producer: 19900801 In: European neurology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	243.	Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy. [electronic resource] by De Meirleir, L Lissens, W Benelli, C Ponsot, G Desguerre, I Marsac, C Rodriguez, D Saudubray, J M Poggi, F Liebaers, I Producer: 19950427 In: Pediatric research vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	244.	Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy. [electronic resource] by Nimmo, Graeme A M Venkatesh, Sundararajan Pandey, Ashutosh K Marshall, Christian R Hazrati, Lili-Naz Blaser, Susan Ahmed, Sohnee Cameron, Jessie Singh, Kamalendra Ray, Peter N Suzuki, Carolyn K Yoon, Grace Producer: 20190604 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	245.	Mitochondrial cytopathy with lactic acidosis, carnitine deficiency and DeToni-Fanconi-Debré syndrome. [electronic resource] by Kitano, A Nishiyama, S Miike, T Hattori, S Ohtani, Y Matsuda, I Producer: 19861114 In: Brain & development vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	246.	A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts. [electronic resource] by Kerr, D S Berry, S A Lusk, M M Ho, L Patel, M S Producer: 19880926 In: Pediatric research vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	247.	Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the alpha-subunit of the enzyme. [electronic resource] by McKay, N Petrova-Benedict, R Thoene, J Bergen, B Wilson, W Robinson, B Producer: 19860522 In: European journal of pediatrics vol. 144 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	248.	[Mitochondrial dysfunction and brain development disorders]. [electronic resource] by Goto, Y Producer: 20010726 In: No to shinkei = Brain and nerve vol. 53 Availability: No items available. Save to lists Add to cart (remove)
	249.	Defects of pyruvate metabolism and the Krebs cycle. [electronic resource] by De Meirleir, Linda Producer: 20030507 In: Journal of child neurology vol. 17 Suppl 3 Availability: No items available. Save to lists Add to cart (remove)
	250.	Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region. [electronic resource] by Naito, Etsuo Ito, Michinori Yokota, Ichiro Saijo, Takahiko Matsuda, Junko Ogawa, Yukiko Kitamura, Seiko Takada, Eiko Horii, Yoshihiro Kuroda, Yasuhiro Producer: 20021218 In: Biochimica et biophysica acta vol. 1588 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	251.	Multiple presentation of mitochondrial disorders. [electronic resource] by Nissenkorn, A Zeharia, A Lev, D Fatal-Valevski, A Barash, V Gutman, A Harel, S Lerman-Sagie, T Producer: 19991021 In: Archives of disease in childhood vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	252.	Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts. [electronic resource] by Schwab, Marina A Kölker, Stefan van den Heuvel, Lambert P Sauer, Sven Wolf, Nicole I Rating, Dietz Hoffmann, Georg F Smeitink, Jan A M Okun, Jürgen G Producer: 20050207 In: Clinical chemistry vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	253.	Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency. [electronic resource] by Naito, E Ito, M Yokota, I Saijo, T Ogawa, Y Shinahara, K Kuroda, Y Producer: 20020530 In: Neuropediatrics vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	254.	Pyruvate dehydrogenase E1 alpha subunit genes in the mouse: mapping and comparison with human homologs. [electronic resource] by Brown, R M Dahl, H H Brown, G K Producer: 19901210 In: Somatic cell and molecular genetics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	255.	Adult leigh syndrome: treatment with intravenous soybean oil for acute central respiratory failure. [electronic resource] by Kumagai, R Ichikawa, K Yasui, T Kageyama, Y Miyabayashi, S Producer: 20000621 In: European journal of neurology vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	256.	A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene. [electronic resource] by Bachmann-Gagescu, R Merritt, J Lawrence Hahn, S H Producer: 20121217 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)
	257.	Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency. [electronic resource] by Shin, Ha Kyung Grahame, George McCandless, Shawn E Kerr, Douglas S Bedoyan, Jirair K Producer: 20180801 In: Molecular genetics and metabolism vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	258.	Visual Field Loss in a Patient With Optic Disc Cupping. [electronic resource] by Walsh, James T Robbins, Shira L Savino, Peter J Producer: 20200221 In: JAMA ophthalmology vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	259.	The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA. [electronic resource] by Dahl, H H Hunt, S M Hutchison, W M Brown, G K Producer: 19870626 In: The Journal of biological chemistry vol. 262 Availability: No items available. Save to lists Add to cart (remove)
	260.	First characterization of a large deletion of the PDHA 1 gene. [electronic resource] by Brivet, Michèle Moutard, Marie-Laure Zater, Mokhtar Venet, Lydia Chenel, Claude Mine, Manuele Legrand, A Producer: 20060227 In: Molecular genetics and metabolism vol. 86 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.