Search Results - "DeLonlay, Pascale"

Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency by VEDRENNE, Vanessa, GOWHER, Ali, MUNNICH, Arnold, TARASSOV, Ivan, RÖTIG, Agnes, DE LONLAY, Pascale, NITSCHKE, Patrick, SERRE, Valérie, BODDAERT, Nathalie, ALTUZARRA, Cecilia, MAGER-HECKEL, Anne-Marie, CHRETIEN, Florence, ENTELIS, Nina

“…Multiple-respiratory-chain deficiency represents an important cause of mitochondrial disorders. Hitherto, however, mutations in genes involved in mtDNA…”
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Epileptic phenotypes in children with respiratory chain disorders by El Sabbagh, Sandra, Lebre, Anne‐Sophie, Bahi‐Buisson, Nadia, Delonlay, Pascale, Soufflet, Christine, Boddaert, Nathalie, Rio, Marlène, Rötig, Agnès, Dulac, Olivier, Munnich, Arnold, Desguerre, Isabelle

“…Summary Purpose:  Epilepsy is a commonly reported but rarely described clinical hallmark of mitochondrial respiratory chain defects (RCDs) with encephalopathy…”
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Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism by Gataullina, Svetlana, Delonlay, Pascale, Lemaire, Eric, Boddaert, Nathalie, Bulteau, Christine, Soufflet, Christine, Laín, Gemma Aznar, Nabbout, Rima, Chiron, Catherine, Dulac, Olivier

“…Aim The aim of the study was to characterize seizures and epilepsy related to hypoglycaemia. Method We analyzed the files of 170 consecutive patients referred…”
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Clinical relevance of loss of heterozygosity of the short arm of chromosome 1 in neuroblastoma: A single‐institution study by Schleiermacher, Gudrun, Delattre, Olivier, Peter, Martine, Mosseri, Véronique, Delonlay, Pascale, Vielh, Philippe, Thomas, Gilles, Zucker, Jean‐Michel, Magdelénat, Henri, Michon, Jean

“…Neuroblastoma is characterized by a wide variability of its clinical course, and considerable effort has been made to identify factors determining outcome in…”
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Coenzyme Q10 and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits by Geromel, Vanna, Darin, Niklas, Chrétien, Dominique, Bénit, Paule, DeLonlay, Pascale, Rötig, Agnès, Munnich, Arnold, Rustin, Pierre

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Respiratory chain deficiencies by Delonlay, Pascale, Rötig, Agnes, Sarnat, Harvey B

“…Mitochondrial functions are intimately associated with neurological symptoms. Various clinical and biological features are suggestive of energy depletion…”
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Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy by Mochel, Fanny, DeLonlay, Pascale, Touati, Guy, Brunengraber, Henri, Kinman, Renee P., Rabier, Daniel, Roe, Charles R., Saudubray, Jean-Marie

“…A six-day-old girl was referred for severe hepatic failure, dehydratation, axial hypotonia, and both lactic acidosis and ketoacidosis. Biotin-unresponsive…”
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Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non‐convulsive status epilepticus? by Desguerre, Isabelle, Marti, Ixtasu, Valayannopoulos, Vassili, Bahi‐Buisson, Nadia, Dulac, Olivier, Plouin, Perrine, DeLonlay, Pascale, Hertz‐Pannier, Lucie, Boddaert, Nathalie

“…The purpose of this study was to report patients with pharmacoresistant West syndrome of unknown cause whose magnetic resonance imaging (MRI) with diffusion…”
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Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits by Geromel, Vanna, Darin, Niklas, Chrétien, Dominique, Bénit, Paule, DeLonlay, Pascale, Rötig, Agnès, Munnich, Arnold, Rustin, Pierre

“…While there have been major advances in both the identification of the molecular basis and our understanding of mitochondrial pathology, the clinical…”
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Respiratory Chain Defects May Present Only with Hypoglycemia by Mochel, Fanny, Slama, Abdelhamid, Touati, Guy, Desguerre, Isabelle, Giurgea, Irina, Rabier, Daniel, Brivet, Michele, Rustin, Pierre, Saudubray, Jean-Marie, DeLonlay, Pascale

“…Hypoglycemia occasionally results from oxidative phosphorylation deficiency, associated with liver failure. Conversely, in some cases of respiratory chain…”
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Coenzyme Q 10 and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits by Geromel, Vanna, Darin, Niklas, Chrétien, Dominique, Bénit, Paule, DeLonlay, Pascale, Rötig, Agnès, Munnich, Arnold, Rustin, Pierre

“…While there have been major advances in both the identification of the molecular basis and our understanding of mitochondrial pathology, the clinical…”
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Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome by NASSOGNE, Marie-Cécile, SHARRARD, Mark, HERTZ-PANNIER, Lucie, ARMENGAUD, Didier, TOUATI, Guy, DELONLAY-DEBENEY, Pascale, ZERAH, Michel, BRUNELLE, Francis, SAUDUBRAY, Jean-Marie

“…Menkes disease is an X-linked inherited disorder of intestinal copper absorption resulting in copper deficiency. Cardinal features include hair abnormalities,…”
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Hépatopathies métaboliques congénitales — Recommandations pour la prise en charge nutritionnelle by Touati, Guy, Nassogne, Marie-Cécile, Delonlay, Pascale, Depondt, Eliane, Assoun, Murielle, Saudubray, Jean-Marie

“…De nombreuses maladies héréditaires du métabolisme peuvent être à l'origine d'une hépatopathie. Le plus souvent, la thérapeutique est essentiellement ou…”
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