A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation

por Lebigot, Elise, Schiff, Manuel, Golinelli-Cohen, Marie-Pierre
Publicado 2021

Antenatal nephromegaly and propionic acidemia: a case report

por Bernheim, Ségolène, Deschênes, Georges, Schiff, Manuel, Cussenot, Isabelle, Niel, Olivier
Publicado 2017

Mouse Studies to Shape Clinical Trials for Mitochondrial Diseases: High Fat Diet in Harlequin Mice

por Schiff, Manuel, Bénit, Paule, El-Khoury, Riyad, Schlemmer, Dimitri, Benoist, Jean-François, Rustin, Pierre
Publicado 2011

Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening

por Bower, Alexandra, Imbard, Apolline, Benoist, Jean-François, Pichard, Samia, Rigal, Odile, Baud, Olivier, Schiff, Manuel
Publicado 2019

ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics

por Prabhu, Dolly, Goldstein, Amy C., El-Khoury, Riyad, Rak, Malgorzata, Edmunds, Lia, Rustin, Pierre, Vockley, Jerry, Schiff, Manuel
Publicado 2015

Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients

por Herenger, Yvan, Maes, Emmanuelle, François, Laurent, Pasco, Jeremy, Bouchereau, Juliette, Pichard, Samia, Ogier de Baulny, Hélène, Schiff, Manuel
Publicado 2019

Should Metabolic Diseases Be Systematically Screened in Nonsyndromic Autism Spectrum Disorders?

por Schiff, Manuel, Benoist, Jean-François, Aïssaoui, Sofiane, Boepsflug-Tanguy, Odile, Mouren, Marie-Christine, de Baulny, Hélène Ogier, Delorme, Richard
Publicado 2011

Correction: Should Metabolic Diseases Be Systematically Screened in Nonsyndromic Autism Spectrum Disorders?

por Schiff, Manuel, Benoist, Jean-François, Aïssaoui, Sofiane, Boepsflug-Tanguy, Odile, Mouren, Marie-Christine, de Baulny, Hélène Ogier, Delorme, Richard
Publicado 2011

Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy

por Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Gitiaux, Cyril, Schiff, Manuel, Boddaert, Nathalie, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès
Publicado 2019

Paradoxical Inhibition of Glycolysis by Pioglitazone Opposes the Mitochondriopathy Caused by AIF Deficiency

por Bénit, Paule, Pelhaître, Alice, Saunier, Elise, Bortoli, Sylvie, Coulibaly, Assetou, Rak, Malgorzata, Schiff, Manuel, Kroemer, Guido, Zeviani, Massimo, Rustin, Pierre
Publicado 2017

High homocysteine induces betaine depletion

por Imbard, Apolline, Benoist, Jean-François, Esse, Ruben, Gupta, Sapna, Lebon, Sophie, de Vriese, An S, de Baulny, Helene Ogier, Kruger, Warren, Schiff, Manuel, Blom, Henk J.
Publicado 2015

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

por Harbulot, Carole, Paquay, Stéphanie, Dorboz, Imen, Pichard, Samia, Bourillon, Agnès, Benoist, Jean-François, Jardel, Claude, Ogier de Baulny, Hélène, Boespflug-Tanguy, Odile, Schiff, Manuel
Publicado 2016

Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cells

por Bénit, Paule, Kahn, Agathe, Chretien, Dominique, Bortoli, Sylvie, Huc, Laurence, Schiff, Manuel, Gimenez-Roqueplo, Anne-Paule, Favier, Judith, Gressens, Pierre, Rak, Malgorzata, Rustin, Pierre
Publicado 2019

Angelman syndrome and isovaleric acidemia: What is the link?

por Lambrecht, Alix, Pichard, Samia, Maurey, Hélène, Segarra, Nuria Garcia, Drunat, Séverine, Acquaviva-Bourdain, Cécile, Passemard, Sandrine, Benoist, Jean-François, Fauret-Amsellem, Anne-Laure, Schiff, Manuel
Publicado 2015

Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation

por Desprairies, Camille, Imbard, Apolline, Koehl, Bérengère, Lorrot, Mathie, Gaschignard, Jean, Sommet, Julie, Pichard, Samia, Holvoet, Laurent, Faye, Albert, Benkerrou, Malika, Benoist, Jean-François, Schiff, Manuel
Publicado 2020

Citrulline in the management of patients with urea cycle disorders

por Imbard, Apolline, Bouchereau, Juliette, Arnoux, Jean-Baptiste, Brassier, Anaïs, Schiff, Manuel, Bérat, Claire-Marine, Pontoizeau, Clément, Benoist, Jean-François, Josse, Constant, Montestruc, François, de Lonlay, Pascale
Publicado 2023

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study

por Husson, Marie-Caroline, Schiff, Manuel, Fouilhoux, Alain, Cano, Aline, Dobbelaere, Dries, Brassier, Anais, Mention, Karine, Arnoux, Jean-Baptiste, Feillet, François, Chabrol, Brigitte, Guffon, Nathalie, Elie, Caroline, de Lonlay, Pascale
Publicado 2016

Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls

por Catania, Alessia, Iuso, Arcangela, Bouchereau, Juliette, Kremer, Laura S., Paviolo, Marina, Terrile, Caterina, Bénit, Paule, Rasmusson, Allan G., Schwarzmayr, Thomas, Tiranti, Valeria, Rustin, Pierre, Rak, Malgorzata, Prokisch, Holger, Schiff, Manuel
Publicado 2019

Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia

por Marelli, Cecilia, Fouilhoux, Alain, Benoist, Jean‐Francois, De Lonlay, Pascale, Guffon‐Fouilhoux, Nathalie, Brassier, Anais, Cano, Aline, Chabrol, Brigitte, Pennisi, Alessandra, Schiff, Manuel, Acquaviva, Cecile, Murphy, Elaine, Servais, Aude, Lachmann, Robin
Publicado 2022

Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observationa...

por de Lonlay, Pascale, Posset, Roland, Mütze, Ulrike, Mention, Karine, Lamireau, Delphine, Schiff, Manuel, Servais, Aude, Arnoux, Jean Baptiste, Brassier, Anaïs, Dao, Myriam, Douillard, Claire, Ottolenghi, Chris, Pontoizeau, Clément, Miotto, Federica, Le Mouhaër, Jeannie
Publicado 2021