Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
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
Published in Genetics in medicine (01.05.2019)
Published in Genetics in medicine (01.05.2019)
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Congenital hyperinsulinism: current trends in diagnosis and therapy
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
Published in Orphanet journal of rare diseases (03.10.2011)
Published in Orphanet journal of rare diseases (03.10.2011)
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Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria
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.
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
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Journal Article
OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort
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
Published in Journal of inherited metabolic disease (01.09.2021)
Published in Journal of inherited metabolic disease (01.09.2021)
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Normal human adipose tissue functions and differentiation in patients with biallelic LPIN1 inactivating mutations
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
Published in Journal of lipid research (01.12.2017)
Published in Journal of lipid research (01.12.2017)
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Journal Article
Cardiomyopathies in Propionic Aciduria are Reversible After Liver Transplantation
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
Published in The Journal of pediatrics (2010)
Published in The Journal of pediatrics (2010)
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Journal Article
Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort
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
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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Journal Article
Mitochondrial DNA Depletion is a Prevalent Cause of Multiple Respiratory Chain Deficiency in Childhood
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
Published in The Journal of pediatrics (01.05.2007)
Published in The Journal of pediatrics (01.05.2007)
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Journal Article
Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy
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
Published in Proceedings of the National Academy of Sciences - PNAS (27.03.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (27.03.2012)
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Journal Article
Puberty and fertility in classic galactosemia
Flechtner, Isabelle, Viaud, Magali, Kariyawasam, Dulanjalee, Perrissin-Fabert, Marie, Bidet, Maud, Bachelot, Anne, Touraine, Philippe, Labrune, Philippe, de Lonlay, Pascale, Polak, Michel
Published in Endocrine Connections (01.02.2021)
Published in Endocrine Connections (01.02.2021)
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Complement activation is a crucial driver of acute kidney injury in rhabdomyolysis
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.
Published in Kidney international (01.03.2021)
Published in Kidney international (01.03.2021)
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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
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
Published in American journal of human genetics (03.08.2017)
Published in American journal of human genetics (03.08.2017)
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Journal Article
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies
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
Published in American journal of human genetics (05.04.2018)
Published in American journal of human genetics (05.04.2018)
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Journal Article
Mutation of RRM2B , encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
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
Published in Nature genetics (01.06.2007)
Published in Nature genetics (01.06.2007)
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Journal Article
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy
Bénit, Paule, Beugnot, Réjane, Chretien, Dominique, Giurgea, Irina, De Lonlay-Debeney, Pascale, Issartel, Jean-Paul, Corral-Debrinski, Marisol, Kerscher, Stefan, Rustin, Pierre, Rötig, Agnès, Munnich, Arnold
Published in Human mutation (01.06.2003)
Published in Human mutation (01.06.2003)
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Journal Article
A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation
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
Published in Haematologica (Roma) (01.12.2018)
Published in Haematologica (Roma) (01.12.2018)
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Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice
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
Published in Nature communications (07.06.2022)
Published in Nature communications (07.06.2022)
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Journal Article
CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures
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
Published in American journal of human genetics (01.03.2008)
Published in American journal of human genetics (01.03.2008)
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Journal Article
Glucose Metabolism in 105 Children and Adolescents After Pancreatectomy for Congenital Hyperinsulinism
Beltrand, Jacques, Caquard, Marylène, Arnoux, Jean-Baptiste, Laborde, Kathleen, Velho, Gilberto, Verkarre, Virginie, Rahier, Jacques, Brunelle, Francis, Nihoul-Fékété, Claire, Saudubray, Jean-Marie, Robert, Jean-Jacques, de Lonlay, Pascale
Published in Diabetes care (01.02.2012)
Published in Diabetes care (01.02.2012)
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Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
Mills, Philippa B., Footitt, Emma J., Mills, Kevin A., Tuschl, Karin, Aylett, Sarah, Varadkar, Sophia, Hemingway, Cheryl, Marlow, Neil, Rennie, Janet, Baxter, Peter, Dulac, Olivier, Nabbout, Rima, Craigen, William J., Schmitt, Bernhard, Feillet, François, Christensen, Ernst, De Lonlay, Pascale, Pike, Mike G., Hughes, M. Imelda, Struys, Eduard A., Jakobs, Cornelis, Zuberi, Sameer M., Clayton, Peter T.
Published in Brain (London, England : 1878) (01.07.2010)
Published in Brain (London, England : 1878) (01.07.2010)
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