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

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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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Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period von Rigaudière, Florence, Delouvrier, Eliane, Le Gargasson, Jean-François, Milani, Paolo, Ogier de Baulny, Hélène, Schiff, Manuel

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

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Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis von Paquay, Stéphanie, Bourillon, Agnès, Pichard, Samia, Benoist, Jean-François, de Lonlay, Pascale, Dobbelaere, Dries, Fouilhoux, Alain, Guffon, Nathalie, Rouvet, Isabelle, Labarthe, François, Mention, Karine, Touati, Guy, Valayannopoulos, Vassili, Ogier de Baulny, Hélène, Elmaleh-Bergès, Monique, Acquaviva-Bourdain, Cécile, Vianey-Saban, Christine, Schiff, Manuel

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Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients von Herenger, Yvan, Maes, Emmanuelle, François, Laurent, Pasco, Jeremy, Bouchereau, Juliette, Pichard, Samia, Ogier de Baulny, Hélène, Schiff, Manuel

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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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Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation von Barthélémy, Cyrille, Ogier De Baulny, Hélène, Diaz, Jorge, Armelle Cheval, Marie, Frachon, Paule, Romero, Norma, Goutieres, Françoise, Fardeau, Michel, Lombès, Anne

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Transient neonatal renal failure and massive polyuria in MEGDEL syndrome von Harbulot, Carole, Paquay, Stéphanie, Dorboz, Imen, Pichard, Samia, Bourillon, Agnès, Benoist, Jean-François, Jardel, Claude, Ogier de Baulny, Hélène, Boespflug-Tanguy, Odile, Schiff, Manuel

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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice von Mayorandan, Sebene, Meyer, Uta, Gokcay, Gülden, Segarra, Nuria Garcia, de Baulny, Hélène Ogier, van Spronsen, Francjan, Zeman, Jiri, de Laet, Corinne, Spiekerkoetter, Ute, Thimm, Eva, Maiorana, Arianna, Dionisi-Vici, Carlo, Moeslinger, Dorothea, Brunner-Krainz, Michaela, Lotz-Havla, Amelie Sophia, Cocho de Juan, José Angel, Couce Pico, Maria Luz, Santer, René, Scholl-Bürgi, Sabine, Mandel, Hanna, Bliksrud, Yngve Thomas, Freisinger, Peter, Aldamiz-Echevarria, Luis Jose, Hochuli, Michel, Gautschi, Matthias, Endig, Jessica, Jordan, Jens, McKiernan, Patrick, Ernst, Stefanie, Morlot, Susanne, Vogel, Arndt, Sander, Johannes, Das, Anibh Martin

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