Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency von 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

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Epileptic phenotypes in children with respiratory chain disorders von 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

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Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism von Gataullina, Svetlana, Delonlay, Pascale, Lemaire, Eric, Boddaert, Nathalie, Bulteau, Christine, Soufflet, Christine, Laín, Gemma Aznar, Nabbout, Rima, Chiron, Catherine, Dulac, Olivier

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Coenzyme Q10 and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits von Geromel, Vanna, Darin, Niklas, Chrétien, Dominique, Bénit, Paule, DeLonlay, Pascale, Rötig, Agnès, Munnich, Arnold, Rustin, Pierre

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Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy von Mochel, Fanny, DeLonlay, Pascale, Touati, Guy, Brunengraber, Henri, Kinman, Renee P., Rabier, Daniel, Roe, Charles R., Saudubray, Jean-Marie

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Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits von Geromel, Vanna, Darin, Niklas, Chrétien, Dominique, Bénit, Paule, DeLonlay, Pascale, Rötig, Agnès, Munnich, Arnold, Rustin, Pierre

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Clinical relevance of loss of heterozygosity of the short arm of chromosome 1 in neuroblastoma: A single‐institution study von Schleiermacher, Gudrun, Delattre, Olivier, Peter, Martine, Mosseri, Véronique, Delonlay, Pascale, Vielh, Philippe, Thomas, Gilles, Zucker, Jean‐Michel, Magdelénat, Henri, Michon, Jean

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Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non‐convulsive status epilepticus? von Desguerre, Isabelle, Marti, Ixtasu, Valayannopoulos, Vassili, Bahi‐Buisson, Nadia, Dulac, Olivier, Plouin, Perrine, DeLonlay, Pascale, Hertz‐Pannier, Lucie, Boddaert, Nathalie

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Respiratory Chain Defects May Present Only with Hypoglycemia von Mochel, Fanny, Slama, Abdelhamid, Touati, Guy, Desguerre, Isabelle, Giurgea, Irina, Rabier, Daniel, Brivet, Michele, Rustin, Pierre, Saudubray, Jean-Marie, DeLonlay, Pascale

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Coenzyme Q 10 and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits von Geromel, Vanna, Darin, Niklas, Chrétien, Dominique, Bénit, Paule, DeLonlay, Pascale, Rötig, Agnès, Munnich, Arnold, Rustin, Pierre

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Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome von NASSOGNE, Marie-Cécile, SHARRARD, Mark, HERTZ-PANNIER, Lucie, ARMENGAUD, Didier, TOUATI, Guy, DELONLAY-DEBENEY, Pascale, ZERAH, Michel, BRUNELLE, Francis, SAUDUBRAY, Jean-Marie

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Hépatopathies métaboliques congénitales — Recommandations pour la prise en charge nutritionnelle von Touati, Guy, Nassogne, Marie-Cécile, Delonlay, Pascale, Depondt, Eliane, Assoun, Murielle, Saudubray, Jean-Marie

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Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia von Munnich, Arnold, de Lonlay, Pascale, Rustin, Pierre, Sidi, Daniel, Chretien, Dominique, Foury, Françoise, Koenig, Michel, Rötig, Agnès

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Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pan... von de Lonlay, P, Fournet, J C, Rahier, J, Gross-Morand, M S, Poggi-Travert, F, Foussier, V, Bonnefont, J P, Brusset, M C, Brunelle, F, Robert, J J, Nihoul-Fékété, C, Saudubray, J M, Junien, C

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