Recommendations for the management of tyrosinaemia type 1 von de Laet, Corinne, Dionisi-Vici, Carlo, Leonard, James V, McKiernan, Patrick, Mitchell, Grant, Monti, Lidia, de Baulny, Hélène Ogier, Pintos-Morell, Guillem, Spiekerkötter, Ute

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SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance von Schiff, Manuel, Veauville-Merllié, Alice, Su, Chen Hsien, Tzagoloff, Alexander, Rak, Malgorzata, Ogier de Baulny, Hélène, Boutron, Audrey, Smedts-Walters, Hélène, Romero, Norma B, Rigal, Odile, Rustin, Pierre, Vianey-Saban, Christine, Acquaviva-Bourdain, Cécile

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Lysinuric protein intolerance (LPI): A multi organ disease by far more complex than a classic urea cycle disorder von Ogier de Baulny, Hélène, Schiff, Manuel, Dionisi-Vici, Carlo

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Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial von Imbard, Apolline, Toumazi, Artemis, Magréault, Sophie, Garcia-Segarra, Nuria, Schlemmer, Dimitri, Kaguelidou, Florentia, Perronneau, Isabelle, Haignere, Jérémie, de Baulny, Hélène Ogier, Kuster, Alice, Feillet, François, Alberti, Corinne, Guilmin-Crépon, Sophie, Benoist, Jean-François, Schiff, Manuel

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CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures von Mollet, Julie, Delahodde, Agnès, Serre, Valérie, Chretien, Dominique, Schlemmer, Dimitri, Lombes, Anne, Boddaert, Nathalie, Desguerre, Isabelle, de Lonlay, Pascale, Ogier de Baulny, Hélène, Munnich, Arnold, Rötig, Agnès

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Severe respiratory complex III defect prevents liver adaptation to prolonged fasting von Kremer, Laura S, L’hermitte-Stead, Caroline, Lesimple, Pierre, Gilleron, Mylène, Filaut, Sandrine, Jardel, Claude, Haack, Tobias B, Strom, Tim M, Meitinger, Thomas, Azzouz, Hatem, Tebib, Neji, Ogier de Baulny, Hélène, Touati, Guy, Prokisch, Holger, Lombès, Anne

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QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease von Guarani, Virginia, Jardel, Claude, Chrétien, Dominique, Lombès, Anne, Bénit, Paule, Labasse, Clémence, Lacène, Emmanuelle, Bourillon, Agnès, Imbard, Apolline, Benoist, Jean-François, Dorboz, Imen, Gilleron, Mylène, Goetzman, Eric S, Gaignard, Pauline, Slama, Abdelhamid, Elmaleh-Bergès, Monique, Romero, Norma B, Rustin, Pierre, Ogier de Baulny, Hélène, Paulo, Joao A, Harper, J Wade, Schiff, Manuel

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Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient von Vuillaumier-Barrot, Sandrine, Schiff, Manuel, Mattioli, Francesca, Schaefer, Elise, Dupont, Audrey, Dancourt, Julia, Dupré, Thierry, Couvineau, Alain, de Baulny, Hélène Ogier, de Lonlay, Pascale, Seta, Nathalie, Moore, Stuart, Chantret, Isabelle

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Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders? von Schiff, Manuel, Benoist, Jean-François, Aïssaoui, Sofiane, Boespflug-Tanguy, Odile, Boepsflug-Tanguy, Odile, Mouren, Marie-Christine, de Baulny, Hélène Ogier, Delorme, Richard

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Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients von Baruteau, Julien, Sachs, Philippe, Broué, Pierre, Brivet, Michèle, Abdoul, Hendy, Vianey-Saban, Christine, Ogier de Baulny, Hélène

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Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression? von Auré, Karine, Ogier de Baulny, Hélène, Laforêt, Pascal, Jardel, Claude, Eymard, Bruno, Lombès, Anne

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Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects von Pagniez-Mammeri, Hélène, Lombes, Anne, Brivet, Michèle, Ogier-de Baulny, Hélène, Landrieu, Pierre, Legrand, Alain, Slama, Abdelhamid

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The compartmentalisation of phosphorylated free oligosaccharides in cells from a CDG Ig patient reveals a novel ER-to-cytosol translocation process von Peric, Delphine, Durrant-Arico, Christelle, Delenda, Christophe, Dupré, Thierry, De Lonlay, Pascale, de Baulny, Hélène Ogier, Pelatan, Cécile, Bader-Meunier, Brigitte, Danos, Olivier, Chantret, Isabelle, Moore, Stuart E H

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A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure von Tzagoloff, Alexander, Niaudet, Patrick, Barrientos, Antoni, Munnich, Arnold, Rustin, Pierre, Taanman, Jan-Willem, Chrétien, Dominique, Kadhom, Noman, Rötig, Agnès, Benayoun, Emmanuel, Lombès, Anne, Valnot, Isabelle, de Lonlay, Pascale, Gorbatyuk, Marina, de Baulny, Hélène Ogier

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Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines von Schiff, Manuel, Broue, Pierre, Chabrol, Brigitte, De Laet, Corinne, Habes, Dalila, Mention, Karine, Sarles, Jacques, Spraul, Anne, Valayannopoulos, Vassili, Ogier de Baulny, Hélène

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Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome von Pennisi, Alessandra, Maranda, Bruno, Benoist, Jean‐François, Baudouin, Véronique, Rigal, Odile, Pichard, Samia, Santer, René, Romana Lepri, Francesca, Novelli, Antonio, Ogier de Baulny, Hélène, Dionisi‐Vici, Carlo, Schiff, Manuel

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Management of Phenylketonuria and Hyperphenylalaninemia von Baulny, Hélène Ogier de, Abadie, Véronique, Feillet, François, de Parscau, Loïc

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Long-term liver disease in methylmalonic and propionic acidemias von Imbard, Apolline, Garcia Segarra, Nuria, Tardieu, Marine, Broué, Pierre, Bouchereau, Juliette, Pichard, Samia, de Baulny, Hélène Ogier, Slama, Abdelhamid, Mussini, Charlotte, Touati, Guy, Danjoux, Marie, Gaignard, Pauline, Vogel, Hannes, Labarthe, François, Schiff, Manuel, Benoist, Jean-François

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Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia von Gaignard, Pauline, Menezes, Minal, Schiff, Manuel, Bayot, Aurélien, Rak, Malgorzata, Ogier de Baulny, Hélène, Su, Chen-Hsien, Gilleron, Mylene, Lombes, Anne, Abida, Heni, Tzagoloff, Alexander, Riley, Lisa, Cooper, Sandra T., Mina, Kym, Sivadorai, Padma, Davis, Mark R., Allcock, Richard J.N., Kresoje, Nina, Laing, Nigel G., Thorburn, David R., Slama, Abdelhamid, Christodoulou, John, Rustin, Pierre

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MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis von Corazza, Giovanni, Pagan, Cécile, Hardy, Gaëlle, Besson, Gérard, Lombès, Anne, Seguy, David, Acquaviva-Bourdain, Cécile, Bouhour, Francoise, Gaignard, Pauline, Slama, Abdelhamid, Roubertie, Agathe, Morales, Raul Juntas, Barth, Magalie, Cintas, Pascal, Bereau, Matthieu, Campana-Salort, Emmanuelle, Ogier de Baulny, Hélène, Schiff, Manuel, Benoist, Jean-François, Corne, Christelle, Joly, Francisca

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