Long-term follow-up in PMM2-CDG: are we ready to start treatment trials? von Witters, Peter, Honzik, Tomas, Bauchart, Eric, Altassan, Ruqaiah, Pascreau, Tiffany, Bruneel, Arnaud, Vuillaumier, Sandrine, Seta, Nathalie, Borgel, Delphine, Matthijs, Gert, Jaeken, Jaak, Meersseman, Wouter, Cassiman, David, Pascale de, Lonlay, Morava, Eva

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Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone‐responsive myopathy von Rashid, Talha, Nemazanyy, Ivan, Paolini, Cecilia, Tatsuta, Takashi, Crespin, Paul, de Villeneuve, Delphine, Brodesser, Susanne, Benit, Paule, Rustin, Pierre, Baraibar, Martin A, Agbulut, Onnik, Olivier, Anne, Protasi, Feliciano, Langer, Thomas, Chrast, Roman, de Lonlay, Pascale, de Foucauld, Helene, Blaauw, Bert, Pende, Mario

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Congenital hyperinsulinism: current trends in diagnosis and therapy von Arnoux, Jean-Baptiste, Verkarre, Virginie, Saint-Martin, Cécile, Montravers, Françoise, Brassier, Anaïs, Valayannopoulos, Vassili, Brunelle, Francis, Fournet, Jean-Christophe, Robert, Jean-Jacques, Aigrain, Yves, Bellanné-Chantelot, Christine, de Lonlay, Pascale

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Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria von Nota, Benjamin, Struys, Eduard A., Pop, Ana, Jansen, Erwin E., Fernandez Ojeda, Matilde R., Kanhai, Warsha A., Kranendijk, Martijn, van Dooren, Silvy J.M., Bevova, Marianna R., Sistermans, Erik A., Nieuwint, Aggie W.M., Barth, Magalie, Ben-Omran, Tawfeg, Hoffmann, Georg F., de Lonlay, Pascale, McDonald, Marie T., Meberg, Alf, Muntau, Ania C., Nuoffer, Jean-Marc, Parini, Rossella, Read, Marie-Hélène, Renneberg, Axel, Santer, René, Strahleck, Thomas, van Schaftingen, Emile, van der Knaap, Marjo S., Jakobs, Cornelis, Salomons, Gajja S.

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OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort von Gobin‐Limballe, Stephanie, Ottolenghi, Chris, Reyal, Fabien, Arnoux, Jean‐Baptiste, Magen, Maryse, Simon, Marie, Brassier, Anaïs, Jabot‐Hanin, Fabienne, Lonlay, Pascale De, Pontoizeau, Clement, Guirat, Manel, Rio, Marlene, Gesny, Roselyne, Gigarel, Nadine, Royer, Ghislaine, Steffann, Julie, Munnich, Arnold, Bonnefont, Jean‐Paul

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Normal human adipose tissue functions and differentiation in patients with biallelic LPIN1 inactivating mutations von Pelosi, Michele, Testet, Eric, Le Lay, Soazig, Dugail, Isabelle, Tang, Xiaoyun, Mabilleau, Guillaume, Hamel, Yamina, Madrange, Marine, Blanc, Thomas, Odent, Thierry, McMullen, Todd P.W., Alfò, Marco, Brindley, David N., de Lonlay, Pascale

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Cardiomyopathies in Propionic Aciduria are Reversible After Liver Transplantation von Romano, Stéphane, MD, Valayannopoulos, Vassili, MD, Touati, Guy, MD, Jais, Jean-Pierre, MD, PhD, Rabier, Daniel, MD, de Keyzer, Yves, PhD, Bonnet, Damien, MD, PhD, de Lonlay, Pascale, MD, PhD

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Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort von Bérat, Claire-Marine, Roda, Célina, Brassier, Anais, Bouchereau, Juliette, Wicker, Camille, Servais, Aude, Dubois, Sandrine, Assoun, Murielle, Belloche, Claire, Barbier, Valérie, Leboeuf, Virginie, Petit, François M., Gaignard, Pauline, Lebigot, Elise, Bérat, Pierre-Jean, Pontoizeau, Clément, Touati, Guy, Talbotec, Cécile, Campeotto, Florence, Ottolenghi, Chris, Arnoux, Jean-Baptiste, de Lonlay pascale, Pascale

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Mitochondrial DNA Depletion is a Prevalent Cause of Multiple Respiratory Chain Deficiency in Childhood von Sarzi, Emmanuelle, Bourdon, Alice, Chrétien, Dominique, PhD, Zarhrate, Mohamed, Corcos, Johanna, Slama, Abdelhamid, MD, Cormier-Daire, Valérie, MD, PhD, de Lonlay, Pascale, MD, PhD, Munnich, Arnold, MD, PhD, Rötig, Agnès, PhD

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Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy von Cartault, François, Munier, Patrick, Benko, Edgar, Desguerre, Isabelle, Hanein, Sylvain, Boddaert, Nathalie, Bandiera, Simonetta, Vellayoudom, Jeanine, Krejbich-Trotot, Pascale, Bintner, Marc, Hoarau, Jean-Jacques, Girard, Muriel, Génin, Emmanuelle, de Lonlay, Pascale, Fourmaintraux, Alain, Naville, Magali, Rodriguez, Diana, Feingold, Josué, Renouil, Michel, Munnich, Arnold, Westhof, Eric, Fähling, Michael, Lyonnet, Stanislas, Henrion-Caude, Alexandra

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Puberty and fertility in classic galactosemia von Flechtner, Isabelle, Viaud, Magali, Kariyawasam, Dulanjalee, Perrissin-Fabert, Marie, Bidet, Maud, Bachelot, Anne, Touraine, Philippe, Labrune, Philippe, de Lonlay, Pascale, Polak, Michel

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Complement activation is a crucial driver of acute kidney injury in rhabdomyolysis von Boudhabhay, Idris, Poillerat, Victoria, Grunenwald, Anne, Torset, Carine, Leon, Juliette, Daugan, Marie V., Lucibello, Francesca, El Karoui, Khalil, Ydee, Amandine, Chauvet, Sophie, Girardie, Patrick, Sacks, Steven, Farrar, Conrad A., Garred, Peter, Berthaud, Romain, Le Quintrec, Moglie, Rabant, Marion, de Lonlay, Pascale, Rambaud, Caroline, Gnemmi, Viviane, Fremeaux-Bacchi, Veronique, Frimat, Marie, Roumenina, Lubka T.

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Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies von Gardeitchik, Thatjana, Mohamed, Miski, Ruzzenente, Benedetta, Karall, Daniela, Guerrero-Castillo, Sergio, Dalloyaux, Daisy, van den Brand, Mariël, van Kraaij, Sanne, van Asbeck, Ellyze, Assouline, Zahra, Rio, Marlene, de Lonlay, Pascale, Scholl-Buergi, Sabine, Wolthuis, David F.G.J., Hoischen, Alexander, Rodenburg, Richard J., Sperl, Wolfgang, Urban, Zsolt, Brandt, Ulrich, Mayr, Johannes A., Wong, Sunnie, de Brouwer, Arjan P.M., Nijtmans, Leo, Munnich, Arnold, Rötig, Agnès, Wevers, Ron A., Metodiev, Metodi D., Morava, Eva

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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy von Habarou, Florence, Hamel, Yamina, Haack, Tobias B., Feichtinger, René G., Lebigot, Elise, Marquardt, Iris, Busiah, Kanetee, Laroche, Cécile, Madrange, Marine, Grisel, Coraline, Pontoizeau, Clément, Eisermann, Monika, Boutron, Audrey, Chrétien, Dominique, Chadefaux-Vekemans, Bernadette, Barouki, Robert, Bole-Feysot, Christine, Nitschke, Patrick, Goudin, Nicolas, Boddaert, Nathalie, Nemazanyy, Ivan, Delahodde, Agnès, Kölker, Stefan, Rodenburg, Richard J., Korenke, G. Christoph, Meitinger, Thomas, Strom, Tim M., Prokisch, Holger, Rotig, Agnes, Ottolenghi, Chris, Mayr, Johannes A., de Lonlay, Pascale

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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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Mutation of RRM2B , encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion von de Lonlay, Pascale, Chrétien, Dominique, Serre, Valérie, Aubert, Sophie, Jais, Jean-Philippe, Arakawa, Hirofumi, Nakamura, Yusuke, Sarzi, Emmanuelle, Munnich, Arnold, Rötig, Agnès, Minai, Limor, Bourdon, Alice, Paquis-Flucklinger, Véronique

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Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases von DE LONLAY, Pascale, FOURNET, Jean-Christophe, BRUSSET, Marie-Claire, LABORDE, Kathleen, BELLANE-CHANTELOT, Christine, VASSAULT, Anne, RAHIER, Jacques, JUNIEN, Claudine, BRUNELLE, Francis, NIHOUL-FEKETE, Claire, SAUDUBRAY, Jean-Marie, ROBERT, Jean-Jacques, TOUATI, Guy, GROOS, Marie-Sylvie, MARTIN, Delphine, SEVIN, Caroline, DELAGNE, Véronique, MAYAUD, Christine, CHIGOT, Valérie, SEMPOUX, Christine

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A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation von Kauskot, Alexandre, Pascreau, Tiffany, Adam, Frédéric, Bruneel, Arnaud, Reperant, Christelle, Lourenco-Rodrigues, Marc-Damien, Rosa, Jean-Philippe, Petermann, Rachel, Maurey, Hélène, Auditeau, Claire, Lasne, Dominique, Denis, Cécile V, Bryckaert, Marijke, de Lonlay, Pascale, Lavenu-Bombled, Cécile, Melki, Judith, Borgel, Delphine

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Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice von Pontoizeau, Clément, Simon-Sola, Marcelo, Gaborit, Clovis, Nguyen, Vincent, Rotaru, Irina, Tual, Nolan, Colella, Pasqualina, Girard, Muriel, Biferi, Maria-Grazia, Arnoux, Jean-Baptiste, Rötig, Agnès, Ottolenghi, Chris, de Lonlay, Pascale, Mingozzi, Federico, Cavazzana, Marina, Schiff, Manuel

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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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