Therapies in inborn errors of oxidative metabolism

द्वारा Schiff, Manuel, Bénit, Paule, Jacobs, Howard T., Vockley, Jerry, Rustin, Pierre
प्रकाशित 2012

Antenatal nephromegaly and propionic acidemia: a case report

द्वारा Bernheim, Ségolène, Deschênes, Georges, Schiff, Manuel, Cussenot, Isabelle, Niel, Olivier
में प्रकाशित BMC Nephrol (2017)

Metabolic Pathways at the Crossroads of Diabetes and Inborn Errors

द्वारा Goetzman, Eric S., Gong, Zhenwei, Schiff, Manuel, Wang, Yan, Muzumdar, Radhika H.
में प्रकाशित J Inherit Metab Dis (2017)

CUGC for lysinuric protein intolerance (LPI)

द्वारा Martinelli, Diego, Schiff, Manuel, Semeraro, Michela, Agolini, Emanuele, Novelli, Antonio, Dionisi-Vici, Carlo
में प्रकाशित Eur J Hum Genet (2020)

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

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

Molecular and Cellular Pathology of Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency

द्वारा Schiff, Manuel, Mohsen, Al-Walid, Karunanidhi, Anuradha, McCracken, Elizabeth, Yeasted, Renita, Vockley, Jerry
प्रकाशित 2013

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

द्वारा Bower, Alexandra, Imbard, Apolline, Benoist, Jean-François, Pichard, Samia, Rigal, Odile, Baud, Olivier, Schiff, Manuel
में प्रकाशित Sci Rep (2019)

Mitochondrial Cytochrome c Oxidase Deficiency

द्वारा Rak, Malgorzata, Bénit, Paule, Chrétien, Dominique, Bouchereau, Juliette, Schiff, Manuel, El-Khoury, Riyad, Tzagoloff, Alexander, Rustin, Pierre
में प्रकाशित Clin Sci (Lond) (2016)

ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics

द्वारा Prabhu, Dolly, Goldstein, Amy C., El-Khoury, Riyad, Rak, Malgorzata, Edmunds, Lia, Rustin, Pierre, Vockley, Jerry, Schiff, Manuel
में प्रकाशित Mol Genet Metab Rep (2015)

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

द्वारा Herenger, Yvan, Maes, Emmanuelle, François, Laurent, Pasco, Jeremy, Bouchereau, Juliette, Pichard, Samia, Ogier de Baulny, Hélène, Schiff, Manuel
में प्रकाशित Mol Genet Metab Rep (2019)

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

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

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

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

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

द्वारा Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Gitiaux, Cyril, Schiff, Manuel, Boddaert, Nathalie, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès
में प्रकाशित Mol Genet Metab Rep (2019)

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

द्वारा Bénit, Paule, Pelhaître, Alice, Saunier, Elise, Bortoli, Sylvie, Coulibaly, Assetou, Rak, Malgorzata, Schiff, Manuel, Kroemer, Guido, Zeviani, Massimo, Rustin, Pierre
में प्रकाशित EBioMedicine (2017)

High homocysteine induces betaine depletion

द्वारा 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.
में प्रकाशित Biosci Rep (2015)

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

द्वारा Harbulot, Carole, Paquay, Stéphanie, Dorboz, Imen, Pichard, Samia, Bourillon, Agnès, Benoist, Jean-François, Jardel, Claude, Ogier de Baulny, Hélène, Boespflug-Tanguy, Odile, Schiff, Manuel
में प्रकाशित Mol Genet Metab Rep (2016)

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

द्वारा Bénit, Paule, Kahn, Agathe, Chretien, Dominique, Bortoli, Sylvie, Huc, Laurence, Schiff, Manuel, Gimenez-Roqueplo, Anne-Paule, Favier, Judith, Gressens, Pierre, Rak, Malgorzata, Rustin, Pierre
में प्रकाशित PLoS One (2019)

Angelman syndrome and isovaleric acidemia: What is the link?

द्वारा 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
में प्रकाशित Mol Genet Metab Rep (2015)

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

द्वारा 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
में प्रकाशित Mol Genet Metab Rep (2020)

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

द्वारा 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
में प्रकाशित Orphanet J Rare Dis (2016)