Search Results - "Saban, C"

The effect of cerium oxide on lung injury following lower extremity ischemia-reperfusion injury in rats under desflurane anesthesia by Ozdemirkan, Aycan, Kucuk, Aysegul, Gunes, Isin, Arslan, Mustafa, Tuncay, Aydin, Sivgin, Volkan, Sezen, Saban C, Boyunaga, Hakan

“…Objectives: To examine the effects of desflurane and cerium oxide (CO) on lung tissue following ischemia-reperfusion injury (IRI). Methods: Experiments were…”
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Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation by Peña‐Quintana, L., Scherer, G., Curbelo‐Estévez, M.L., Jiménez‐Acosta, F., Hartmann, B., La Roche, F., Meavilla‐Olivas, S., Pérez‐Cerdá, C., García‐Segarra, N., Giguère, Y., Huppke, P., Mitchell, G.A., Mönch, E., Trump, D., Vianey‐Saban, C., Trimble, E.R., Vitoria‐Miñana, I., Reyes‐Suárez, D., Ramírez‐Lorenzo, T., Tugores, A.

“…Background Tyrosinemia type II, also known as Richner‐Hanhart Syndrome, is an extremely rare autosomal recessive disorder, caused by mutations in the gene…”
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Ex vivo biomechanical evaluation of the primary stability of three different types of femoral stems for total hip replacement in dogs by Saban, C., Viguier, E., Taroni, M., Baldinger, A., Blondel, M., Carozzo, C., Moissonnier, P., Cachon, T.

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A new reversed-phase liquid chromatographic/tandem mass spectrometric method for analysis of underivatised amino acids: evaluation for the diagnosis and the management of inherited disorders of amino acid metabolism by Piraud, M., Vianey-Saban, C., Bourdin, C., Acquaviva-Bourdain, C., Boyer, S., Elfakir, C., Bouchu, D.

“…Seventy‐six compounds of biological interest for the diagnosis of inherited disorders of amino acids (AA) metabolism have previously been demonstrated to be…”
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Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease by Béhin, A., Acquaviva-Bourdain, C., Souvannanorath, S., Streichenberger, N., Attarian, S., Bassez, G., Brivet, M., Fouilhoux, A., Labarre-Villa, A., Laquerrière, A., Pérard, L., Kaminsky, P., Pouget, J., Rigal, O., Vanhulle, C., Eymard, B., Vianey-Saban, C., Laforêt, P.

“…Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare, treatable, beta-oxidation disorder responsible for neuromuscular symptoms in adults…”
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ESI-MS/MS analysis of underivatised amino acids: a new tool for the diagnosis of inherited disorders of amino acid metabolism. Fragmentation study of 79 molecules of biological interest in positive and negative ionisation mode by Piraud, Monique, Vianey-Saban, Christine, Petritis, Konstantinos, Elfakir, Claire, Steghens, Jean-Paul, Morla, Aymeric, Bouchu, Denis

“…The diagnosis of inherited disorders of amino acids (AA) metabolism is usually performed on automated analysers by ion‐exchange chromatography and…”
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Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM by Fowler, B, Burlina, A, Kozich, V, Vianey-Saban, C

“…External quality assurance (EQA) schemes are essential for improvement of accuracy, reliability and comparability of results of biochemical genetic tests…”
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Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency by Kaphan, E., Bou Ali, H., Gastaldi, M., Acquaviva, C., Vianey-Saban, C., Rouzier, C., Fragaki, K., Bannwarth, S., Paquis-Flucklinger, V., Romero, N., Behin, A., Lombès, A., Jardel, C., Rigal, O., Laforêt, P.

“…We describe two patients with mitochondrial DNA mutations in the gene encoding cytochrome b (m.15579A>G, p.Tyr278Cys and m.15045G>A p.Arg100Gln), which…”
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High frequency of creatine deficiency syndromes in patients with unexplained mental retardation by LION-FRANCOIS, L, CHEILLAN, D, JAKOBS, C, SALOMONS, G. S, DES PORTES, V, PITELET, G, ACQUAVIVA-BOURDAIN, C, BUSSY, G, COTTON, F, GUIBAUD, L, GERARD, D, RIVIER, C, VIANEY-SABAN, C

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Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency by Boutron, A., Acquaviva, C., Vianey-Saban, C., de Lonlay, P., de Baulny, H. Ogier, Guffon, N., Dobbelaere, D., Feillet, F., Labarthe, F., Lamireau, D., Cano, A., de Villemeur, T. Billette, Munnich, A., Saudubray, J.M., Rabier, D., Rigal, O., Brivet, M.

“…Deficiency of mitochondrial trifunctional protein (MTP) is caused by mutations in the HADHA and HADHB genes, which have been mostly delineated at the genomic…”
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Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients by Spitz, M. A., Nguyen, M. A., Roche, S., Heron, B., Milh, M., de Lonlay, P., Lion-François, L., Testard, H., Napuri, S., Barth, M., Fournier-Favre, S., Christa, L., Vianey-Saban, C., Corne, C., Roubertie, A.

“…Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive inborn error of metabolism, affecting catecholamines and serotonin…”
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Three new cases of asparagine synthetase deficiency: Confirmation of a poor neurological outcome and a new molecular mechanism by Faoucher, M, Putoux, A, Francannet, C, Poulat, A.L, Chatron, N, Aquaviva, C, Labalme, A, Schluth-Bolard, C, Till, M, Saban, C, Desportes, V, Sanlaville, D, Edery, P, Lesca, G

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L-2-hydroxyglutaric aciduria: report on two cases by Wagner, S, Vianey-Saban, C, Salomons, G-S, Schmitt, E, Feillet, F

“…L-2-hydroxyglutaric aciduria is a rare genetic neurometabolic disease. It occurs in childhood with mental retardation, cerebellar ataxia, and epilepsy…”
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Recognition and management of fatty acid oxidation defects : A series of 107 patients by SAUDUBRAY, J. M, MARTIN, D, BONNEFONT, J. P, RABIER, D, KAMOUN, P, BRIVET, M, DE LONLAY, P, TOUATI, G, POGGI-TRAVERT, F, BONNET, D, JOUVET, P, BOUTRON, M, SLAMA, A, VIANEY-SABAN, C

“…In a personal series of 107 patients, we describe clinical presentations, methods of recognition and therapeutic management of inherited fatty acid oxidation…”
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Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM by Fowler, B., Burlina, A., Kožich, V., Vianey-Saban, C.

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Prenatal symptoms and diagnosis of inherited metabolic diseases by Brassier, A, Ottolenghi, C, Boddaert, N, Sonigo, P, Attié-Bitach, T, Millischer-Bellaiche, A-E, Baujat, G, Cormier-Daire, V, Valayannopoulos, V, Seta, N, Piraud, M, Chadefaux-Vekemans, B, Vianey-Saban, C, Froissart, R, de Lonlay, P

“…Inherited metabolic diseases are mostly due to enzyme deficiency in one of numerous metabolic pathways, leading to absence of a compound downstream from and…”
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Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management by Feillet, F, Ogier, H, Cheillan, D, Aquaviva, C, Labarthe, F, Baruteau, J, Chabrol, B, de Lonlay, P, Valayanopoulos, V, Garnotel, R, Dobbelaere, D, Briand, G, Jeannesson, E, Vassault, A, Vianey-Saban, C

“…MCAD deficiency is the most common fatty acid oxidation disorder, with the prevalence varying from 1/10,000 to 1/27,000 in the countries adjacent to France. As…”
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Adult presentation of MCAD deficiency revealed by coma and severe arrythmias by FEILLET, F, STEINMANN, G, VIANEY-SABAN, C, DE CHILLOU, C, SADOUL, N, LEFEBVRE, E, VIDAILHET, M, BOLLAERT, P. E

“…We report the case of a 33-year-old man who presented with headaches and vomiting. Soon after admission he became drowsy and agitated, developed ventricular…”
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Ethylmalonic encephalopathy: clinical and biochemical observations by Zafeiriou, D I, Augoustides-Savvopoulou, P, Haas, D, Smet, J, Triantafyllou, P, Vargiami, E, Tamiolaki, M, Gombakis, N, van Coster, R, Sewell, A C, Vianey-Saban, C, Gregersen, N

“…Ethylmalonic encephalopathy (EE) is a rare, recently defined inborn error of metabolism which affects the brain, gastrointestinal system and peripheral blood…”
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Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria by Kranendijk, M., Salomons, G. S., Gibson, K. M., Aktuglu-Zeybek, C., Bekri, S., Christensen, E., Clarke, J., Hahn, A., Korman, S. H., Mejaski-Bosnjak, V., Superti-Furga, A., Vianey-Saban, C., van der Knaap, M. S., Jakobs, C., Struys, E. A.

“…Summary l -2-hydroxyglutaric aciduria ( l -2-HGA) is a rare inherited autosomal recessive neurometabolic disorder caused by mutations in the gene encoding l…”
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