NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients von Masurel-Paulet, A., Poggi-Bach, J., Rolland, M.-O., Bernard, O., Guffon, N., Dobbelaere, D., Sarles, J., de Baulny, H. Ogier, Touati, G.

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Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome von Ammouri, W., Cuisset, L., Rouaghe, S., Rolland, M.-O., Delpech, M., Grateau, G., Ravet, N.

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Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy von Conter, C., Rolland, M. O., Cheillan, D., Bonnet, V., Maire, I., Froissart, R.

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Possible Genotype-Phenotype Correlations in Children with Mild Clinical Course of Canavan Disease von 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.

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Atypical MRI Findings in Canavan Disease: A Patient with a Mild Course von Yalcinkaya, C., Benbir, G., Salomons, G. S., Karaarslan, E., Rolland, M. O., Jakobs, C., van der Knaap, M. S.

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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 von L'herminé‐Coulomb, A., Beuzen, F., Bouvier, R., Rolland, M.O., Froissart, R., Menez, F., Audibert, F., Labrune, P.

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Common resistance mechanisms to deoxynucleoside analogues in variants of the human erythroleukaemic line K562 von 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

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First‐trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria von Rolland, M. O., Cuisset, L., Le Bozec, J., Guffon, N., VianeySaban, C.

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Primary hyperoxaluria in infants: Medical, ethical, and economic issues von Cochat, Pierre, Koch Nogueira, Paulo C., Mahmoud, M.Ayman, Jamieson, Neville V., Scheinman, Jon I., Rolland, Marie-Odile

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Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia von Neuberger, J. M., Schweitzer, S., Rolland, M.‐O., Burghard, R.

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Déficit en 3-HMG-CoA lyase à révélation tardive : savoir reconnaître une maladie rare mais traitable von Pierron, S., Giudicelli, H., Moreigne, M., Khalfi, A., Touati, G., Caruba, C., Rolland, M.-O., Acquaviva, C.

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Reversal of Early Neurologic and Neuroradiologic Manifestations of X-Linked Adrenoleukodystrophy by Bone Marrow Transplantation von 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

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Clinical approach to inherited peroxisomal disorders: A series of 27 patients von 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. A., Saudubray, J. M.

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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? von Cheillan, D., Vercherat, M., Chevalier‐Porst, F., Charcosset, M., Rolland, M. O., Dorche, C.

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Seventeen novel mutations that cause profound biotinidase deficiency von 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

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The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency von Cardoso, M.L, Rodrigues, M.R, Leão, E, Martins, E, Diogo, L, Rodrigues, E, Garcia, P, Rolland, M.O, Vilarinho, L

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Combined liver-kidney transplantation in primary hyperoxaluria type 1 von Cochat, P, Gaulier, J M, Koch Nogueira, P C, Feber, J, Jamieson, N V, Rolland, M O, Divry, P, Bozon, D, Dubourg, L

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Retroviral-Mediated Gene Transfer Corrects Very-Long-Chain Fatty Acid Metabolism in Adrenoleukodystrophy Fibroblasts von 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

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Identification of a Mutation Cluster in Mevalonate Kinase Deficiency, Including a New Mutation in a Patient of Mennonite Ancestry von 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

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An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria von Nimubona, L, Laloum, D, Rolland, M-O, Read, M-H, Guillois, B, Duhamel, JF

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