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	1.	Disorders of mitochondrial function. [electronic resource] by Debray, François-Guillaume Lambert, Marie Mitchell, Grant A Producer: 20080926 In: Current opinion in pediatrics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome. [electronic resource] by Debray, François-Guillaume Lambert, Marie Allard, Pierre Mitchell, Grant A Producer: 20110222 In: Journal of child neurology vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Free sialic acid storage disease mimicking cerebral palsy and revealed by blood smear examination. [electronic resource] by Debray, François-Guillaume Lefebvre, Caroline Colinet, Stéphanie Segers, Karin Stevens, René Producer: 20110106 In: The Journal of pediatrics vol. 158 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation. [electronic resource] by Debray, François-Guillaume Lambert, Marie Lortie, Anne Vanasse, Michel Mitchell, Grant A Producer: 20071023 In: American journal of medical genetics. Part A vol. 143A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Surprising causes of C5-carnitine false positive results in newborn screening. [electronic resource] by Boemer, François Schoos, Roland de Halleux, Virginie Kalenga, Masendu Debray, François-Guillaume Producer: 20140915 In: Molecular genetics and metabolism vol. 111 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	How to recognize Cowden syndrome: A novel PTEN mutation description. [electronic resource] by Delannoy, Pauline Debray, François Guillaume Verloes, Alain Beckers, Albert Valdes-Socin, Hernan Producer: 20190103 In: Annales d'endocrinologie vol. 78 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy. [electronic resource] by Debray, François-Guillaume Baguette, Christel Colinet, Stéphanie Van Maldergem, Lionel Verellen-Dumouin, Christine Producer: 20131224 In: Molecular genetics and metabolism vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. [electronic resource] by Debray, François-Guillaume Mitchell, Grant A Allard, Pierre Robinson, Brian H Hanley, James A Lambert, Marie Producer: 20070612 In: Clinical chemistry vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Acute tubular dysfunction with Fanconi syndrome: a new manifestation of mitochondrial cytopathies. [electronic resource] by Debray, François-Guillaume Merouani, Aicha Lambert, Marie Brochu, Pierre Bernard, Chantal Robinson, Brian H Mitchell, Grant A Producer: 20080528 In: American journal of kidney diseases : the official journal of the National Kidney Foundation vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes. [electronic resource] by Valdes-Socin, Hernan Rubio Almanza, Matilde Tomé Fernández-Ladreda, Mariana Debray, François Guillaume Bours, Vincent Beckers, Albert Producer: 20140729 In: Frontiers in endocrinology vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Recurrent pancreatitis in mitochondrial cytopathy. [electronic resource] by Debray, François-Guillaume Drouin, Eric Herzog, Denise Lortie, Anne Lambert, Marie Garel, Laurent Mitchell, Grant A Michaud, Jacques L Producer: 20070112 In: American journal of medical genetics. Part A vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene. [electronic resource] by Debray, François-Guillaume Seneca, Sara Gonce, Michel Vancampenhaut, Kim Bianchi, Elettra Boemer, François Weekers, Laurent Smet, Joél Van Coster, Rudy Producer: 20150401 In: Mitochondrion vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Neonatal liver cirrhosis without iron overload caused by gestational alloimmune liver disease. [electronic resource] by Debray, Francois-Guillaume de Halleux, Virginie Guidi, Ornella Detrembleur, Nancy Gaillez, Stéphanie Rausin, Léon Goyens, Philippe Pan, Xiaomin Whitington, Peter F Producer: 20120613 In: Pediatrics vol. 129 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses. [electronic resource] by Segers, Karin Pierquin, Genevieve Gaillez, Stephanie Delbecque, Katty Retz, Maria Tebache, Malek Waterham, Hans Wanders, Ronald Ferdinandusse, Sacha Debray, François-Guillaume Producer: 20130902 In: Prenatal diagnosis vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases. [electronic resource] by Debray, François-Guillaume Lambert, Marie Chevalier, Isabelle Robitaille, Yves Decarie, Jean-Claude Shoubridge, Eric A Robinson, Brian H Mitchell, Grant A Producer: 20070423 In: Pediatrics vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Temple-Baraitser syndrome: a rare and possibly unrecognized condition. [electronic resource] by Jacquinet, Adeline Gérard, Marion Gabbett, Michael T Rausin, Léon Misson, Jean-Paul Menten, Björn Mortier, Geert Van Maldergem, Lionel Verloes, Alain Debray, François-Guillaume Producer: 20101215 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases. [electronic resource] by Feillet, François Muntau, Ania C Debray, François-Guillaume Lotz-Havla, Amelie S Puchwein-Schwepcke, Alexandra Fofou-Caillierez, Ma'atem Béatrice van Spronsen, Francjan Trefz, Fritz Friedrich Producer: 20150515 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)
	18.	Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease. [electronic resource] by Harvengt, Julie Wanty, Catherine De Paepe, Boel Sempoux, Christine Revencu, Nicole Smet, Joél Van Coster, Rudy Lissens, Willy Seneca, Sara Weekers, Laurent Sokal, Etienne Debray, François-Guillaume Publication details: Molecular genetics and metabolism reports 2014 In: Molecular genetics and metabolism reports vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose? [electronic resource] by Debray, François-Guillaume Damjanovic, Katarina Rosset, Robin Mittaz-Crettol, Lauréane Roux, Clothilde Braissant, Olivier Barbey, Frédéric Bonafé, Luisa De Bandt, Jean-Pascal Tappy, Luc Paquot, Nicolas Tran, Christel Producer: 20190812 In: The American journal of clinical nutrition vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. [electronic resource] by Debray, François-Guillaume Morin, Charles Janvier, Annie Villeneuve, Josée Maranda, Bruno Laframboise, Rachel Lacroix, Jacques Decarie, Jean-Claude Robitaille, Yves Lambert, Marie Robinson, Brian H Mitchell, Grant A Producer: 20110526 In: Journal of medical genetics vol. 48 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 35 results.