NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients
Masurel-Paulet, A., Poggi-Bach, J., Rolland, M.-O., Bernard, O., Guffon, N., Dobbelaere, D., Sarles, J., de Baulny, H. Ogier, Touati, G.
Published in Journal of inherited metabolic disease (01.02.2008)
Published in Journal of inherited metabolic disease (01.02.2008)
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Journal Article
Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy
Conter, C., Rolland, M. O., Cheillan, D., Bonnet, V., Maire, I., Froissart, R.
Published in Journal of inherited metabolic disease (01.02.2006)
Published in Journal of inherited metabolic disease (01.02.2006)
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Journal Article
Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease
Tacke, U, Olbrich, H, Sass, J O, Fekete, A, Horvath, J, Ziyeh, S, Kleijer, W J, Rolland, M-O, Fisher, S, Payne, S, Vargiami, E, Zafeiriou, D I, Omran, H
Published in Neuropediatrics (01.08.2005)
Published in Neuropediatrics (01.08.2005)
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Journal Article
Atypical MRI findings in Canavan disease: a patient with a mild course
Yalcinkaya, C, Benbir, G, Salomons, G S, Karaarslan, E, Rolland, M O, Jakobs, C, van der Knaap, M S
Published in Neuropediatrics (01.10.2005)
Published in Neuropediatrics (01.10.2005)
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Journal Article
First‐trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria
Rolland, M. O., Cuisset, L., Le Bozec, J., Guffon, N., VianeySaban, C.
Published in Journal of inherited metabolic disease (01.12.2005)
Published in Journal of inherited metabolic disease (01.12.2005)
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Journal Article
Fetal type IV glycogen storage disease: Clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family
L'herminé‐Coulomb, A., Beuzen, F., Bouvier, R., Rolland, M.O., Froissart, R., Menez, F., Audibert, F., Labrune, P.
Published in American journal of medical genetics. Part A (01.12.2005)
Published in American journal of medical genetics. Part A (01.12.2005)
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Journal Article
Common resistance mechanisms to deoxynucleoside analogues in variants of the human erythroleukaemic line K562
Dumontet, Charles, Fabianowska‐Majewska, Krystyna, Mantincic, Danko, Callet Bauchu, Evelyne, Tigaud, Isabelle, Gandhi, Varsha, Lepoivre, Michel, Peters, Godefridus J., Rolland, Marie Odile, Wyczechowska, Dorota, Fang, Xiao, Gazzo, Sophie, Voorn, Daphne A., Vanier‐Viornery, Armelle, Mackey, John
Published in British journal of haematology (01.07.1999)
Published in British journal of haematology (01.07.1999)
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Journal Article
Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia
Neuberger, J. M., Schweitzer, S., Rolland, M.‐O., Burghard, R.
Published in Journal of inherited metabolic disease (01.02.2000)
Published in Journal of inherited metabolic disease (01.02.2000)
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Journal Article
Seventeen novel mutations that cause profound biotinidase deficiency
Wolf, B, Jensen, K, Hüner, G, Demirkol, M, Baykal, T, Divry, P, Rolland, M.-O, Perez-Cerdá, C, Ugarte, M, Straussberg, R, Basel-Vanagaite, L, Baumgartner, E.R, Suormala, T, Scholl, S, Das, A.M, Schweitzer, S, Pronicka, E, Sykut-Cegielska, J
Published in Molecular genetics and metabolism (01.09.2002)
Published in Molecular genetics and metabolism (01.09.2002)
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Journal Article
Clinical approach to inherited peroxisomal disorders: a series of 27 patients
Baumgartner, M R, Poll-The, B T, Verhoeven, N M, Jakobs, C, Espeel, M, Roels, F, Rabier, D, Levade, T, Rolland, M O, Martinez, M, Wanders, R J, Saudubray, J M
Published in Annals of neurology (01.11.1998)
Published in Annals of neurology (01.11.1998)
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Journal Article
Combined liver-kidney transplantation in primary hyperoxaluria type 1
Cochat, P, Gaulier, J M, Koch Nogueira, P C, Feber, J, Jamieson, N V, Rolland, M O, Divry, P, Bozon, D, Dubourg, L
Published in European journal of pediatrics (01.12.1999)
Published in European journal of pediatrics (01.12.1999)
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Journal Article
False‐positive results in neonatal screening for cystic fibrosis based on a three‐stage protocol (IRT/DNA/IRT): Should we adjust IRT cut‐off to ethnic origin?
Cheillan, D., Vercherat, M., Chevalier‐Porst, F., Charcosset, M., Rolland, M. O., Dorche, C.
Published in Journal of inherited metabolic disease (01.12.2005)
Published in Journal of inherited metabolic disease (01.12.2005)
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Journal Article
Reversal of Early Neurologic and Neuroradiologic Manifestations of X-Linked Adrenoleukodystrophy by Bone Marrow Transplantation
Aubourg, Patrick, Blanche, Stéphane, Jambaqué, Isabelle, Rocchiccioli, Francis, Kalifa, Gabriel, Naud-Saudreau, Catherine, Rolland, Marie-Odile, Debré, Mariane, Chaussain, Jean-Louis, Griscelli, Claude, Fischer, Alain, Bougnères, Pierre-François
Published in The New England journal of medicine (28.06.1990)
Published in The New England journal of medicine (28.06.1990)
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Journal Article
The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency
Cardoso, M.L, Rodrigues, M.R, Leão, E, Martins, E, Diogo, L, Rodrigues, E, Garcia, P, Rolland, M.O, Vilarinho, L
Published in Molecular genetics and metabolism (01.08.2004)
Published in Molecular genetics and metabolism (01.08.2004)
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Journal Article
An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria
Nimubona, L, Laloum, D, Rolland, M-O, Read, M-H, Guillois, B, Duhamel, JF
Published in Acta Paediatrica (01.06.2002)
Published in Acta Paediatrica (01.06.2002)
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Journal Article
Retroviral-Mediated Gene Transfer Corrects Very-Long-Chain Fatty Acid Metabolism in Adrenoleukodystrophy Fibroblasts
Cartier, Nathalie, Lopez, Jacqueline, Moullier, Philippe, Rocchiccioli, Francis, Rolland, Marie-Odile, Jorge, Paula, Mosser, Jean, Mandel, Jean-Louis, Bougneres, Pierre-Francois, Danos, Olivier, Aubourg, Patrick
Published in Proceedings of the National Academy of Sciences - PNAS (28.02.1995)
Published in Proceedings of the National Academy of Sciences - PNAS (28.02.1995)
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Journal Article
Identification of a Mutation Cluster in Mevalonate Kinase Deficiency, Including a New Mutation in a Patient of Mennonite Ancestry
Hinson, Debra D., Ross, Richard M., Krisans, Skaidrite, Shaw, Joanne L., Kozich, Viktor, Rolland, Marie-Odile, Divry, Priscille, Mancini, Josette, Hoffmann, Georg F., Gibson, K. Michael
Published in American journal of human genetics (01.08.1999)
Published in American journal of human genetics (01.08.1999)
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