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	1.	The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis. [electronic resource] by Gabut, Mathieu Miné, Manuèle Marsac, Cécile Brivet, Michèle Tazi, Jamal Soret, Johann Producer: 20050524 In: Molecular and cellular biology vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation. [electronic resource] by Miné, Manuèle Brivet, Michèle Touati, Guy Grabowski, Paula Abitbol, Marc Marsac, Cécile Producer: 20030519 In: The Journal of biological chemistry vol. 278 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	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)
	4.	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)
	5.	Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency. [electronic resource] by Labarthe, François Benoist, Jean François Brivet, Michèle Vianey-Saban, Christine Despert, François de Baulny, Hélène Ogier Producer: 20070608 In: European journal of pediatrics vol. 165 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Leigh's disease due to a new mutation in the PDHX gene. [electronic resource] by Schiff, Manuel Miné, Manuele Brivet, Michèle Marsac, Cécile Elmaleh-Bergés, Monique Evrard, Philippe Ogier de Baulny, Hélène Producer: 20060602 In: Annals of neurology vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data. [electronic resource] by Baruteau, Julien Sachs, Philippe Broué, Pierre Brivet, Michele Abdoul, Hendy Vianey-Saban, Christine Ogier de Baulny, Hélène Producer: 20140909 In: Journal of inherited metabolic disease vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia. [electronic resource] by Forges, Thierry Monnier, Patricia Leheup, Bruno Cheillan, David Brivet, Michèle Barbarino, Aurelio Guéant, Jean-Louis Feillet, François Producer: 20110121 In: Fertility and sterility vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients. [electronic resource] by Baruteau, Julien Sachs, Philippe Broué, Pierre Brivet, Michèle Abdoul, Hendy Vianey-Saban, Christine Ogier de Baulny, Hélène Producer: 20140519 In: Journal of inherited metabolic disease vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	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)
	11.	Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects. [electronic resource] by Pagniez-Mammeri, Hélène Lombes, Anne Brivet, Michèle Ogier-de Baulny, Hélène Landrieu, Pierre Legrand, Alain Slama, Abdelhamid Producer: 20090515 In: Molecular genetics and metabolism vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations. [electronic resource] by Boutron, Audrey Marabotti, Anna Facchiano, Angelo Cheillan, David Zater, Mokhtar Oliveira, Christophe Costa, Catherine Labrune, Philippe Brivet, Michèle Producer: 20130327 In: Molecular genetics and metabolism vol. 107 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene. [electronic resource] by Dey, Runu Mine, Manuele Desguerre, Isabelle Slama, Abdelhamid Van Den Berghe, Loic Brivet, Michèle Aral, Bernard Marsac, Cécile Producer: 20030228 In: Annals of neurology vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency. [electronic resource] by Korman, Stanley H Pitt, James J Boneh, Avihu Dweikat, Imad Zater, Mokhtar Meiner, Vardiella Gutman, Alisa Brivet, Michèle Producer: 20070123 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)
	15.	The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers. [electronic resource] by Haut, Sandrine de Villemeur, Thierry Billette Brivet, Michèle Guiochon-Mantel, Anne Boutron, Audrey Rustin, Pierre Legrand, Alain Slama, Abdelhamid Producer: 20041106 In: European journal of human genetics : EJHG vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. [electronic resource] by Barnerias, Christine Saudubray, Jean-Marie Touati, Guy De Lonlay, Pascale Dulac, Olivier Ponsot, Gerard Marsac, Cécile Brivet, Michèle Desguerre, Isabelle Producer: 20100507 In: Developmental medicine and child neurology vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency. [electronic resource] by Feillet, François Merten, Marc Battaglia-Hsu, Shyue-Fang Rabier, Daniel Kobayashi, Keiko Straczek, Jean Brivet, Michèle Favre, Elisabeth Guéant, Jean-Louis Producer: 20080619 In: Journal of hepatology vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Respiratory chain defects may present only with hypoglycemia. [electronic resource] by Mochel, Fanny Slama, Abdelhamid Touati, Guy Desguerre, Isabelle Giurgea, Irina Rabier, Daniel Brivet, Michele Rustin, Pierre Saudubray, Jean-Marie DeLonlay, Pascale Producer: 20050705 In: The Journal of clinical endocrinology and metabolism vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. [electronic resource] by Haut, Sandrine Brivet, Michèle Touati, Guy Rustin, Pierre Lebon, Sophie Garcia-Cazorla, Angela Saudubray, Jean Marie Boutron, Audrey Legrand, Alain Slama, Abdelhamid Producer: 20030814 In: Human genetics vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency. [electronic resource] by Thuillier, Laure Rostane, Hidayeth Droin, Veronique Demaugre, France Brivet, Michèle Kadhom, Noman Prip-Buus, Carina Gobin, Stéphanie Saudubray, Jean-Marie Bonnefont, Jean-Paul Producer: 20030425 In: Human mutation vol. 21 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 30 results.