Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease
Laforêt, P, Petiot, P, Nicolino, M, Orlikowski, D, Caillaud, C, Pellegrini, N, Froissart, R, Petitjean, T, Maire, I, Chabriat, H, Hadrane, L, Annane, D, Eymard, B
Published in Neurology (27.05.2008)
Published in Neurology (27.05.2008)
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Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting
Winchester, B., Bali, D., Bodamer, O.A., Caillaud, C., Christensen, E., Cooper, A., Cupler, E., Deschauer, M., Fumić, K., Jackson, M., Kishnani, P., Lacerda, L., Ledvinová, J., Lugowska, A., Lukacs, Z., Maire, I., Mandel, H., Mengel, E., Müller-Felber, W., Piraud, M., Reuser, A., Rupar, T., Sinigerska, I., Szlago, M., Verheijen, F., van Diggelen, O.P., Wuyts, B., Zakharova, E., Keutzer, J.
Published in Molecular genetics and metabolism (01.03.2008)
Published in Molecular genetics and metabolism (01.03.2008)
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Conference Proceeding
Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources
SOUILLET, G, GUFFON, N, GALAMBRUN, C, BERTRAND, Y, FROISSART, R, DORCHE, C, GEBUHRER, L, GARIN, C, BERARD, J, GUIBAUD, P, MAIRE, I, PUJOL, M, TAYLOR, P, SEVIN, F, BLEYZAC, N, MULIER, C, DURIN, A, KEBAILI, K
Published in Bone marrow transplantation (Basingstoke) (01.06.2003)
Published in Bone marrow transplantation (Basingstoke) (01.06.2003)
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Perinatal-lethal Gaucher disease
Mignot, C., Gelot, A., Bessières, B., Daffos, F., Voyer, M., Menez, F., Fallet Bianco, C., Odent, S., Le Duff, D., Loget, P., Fargier, P., Costil, J., Josset, P., Roume, J., Vanier, MT, Maire, I., Billette de Villemeur, T.
Published in American journal of medical genetics. Part A (30.07.2003)
Published in American journal of medical genetics. Part A (30.07.2003)
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Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero
Froissart, R, Cheillan, D, Bouvier, R, Tourret, S, Bonnet, V, Piraud, M, Maire, I
Published in Journal of medical genetics (01.11.2005)
Published in Journal of medical genetics (01.11.2005)
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Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?
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Conference Proceeding
Follow-up of nine patients with Hurler syndrome after bone marrow transplantation
Guffon, N., Souillet, G., Maire, I., Straczek, J., Guibaud, P.
Published in The Journal of pediatrics (01.07.1998)
Published in The Journal of pediatrics (01.07.1998)
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Mucopolysaccharidosis type II - genotype/phenotype aspects
Froissart, R, da Silva, I Moreira, Guffon, N, Bozon, D, Maire, I
Published in Acta Paediatrica (01.11.2002)
Published in Acta Paediatrica (01.11.2002)
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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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Phenotypic spectrum of fucosidosis in Tunisia
Turkia, H. Ben, Tebib, N., Azzouz, H., Abdelmoula, M. S., Bouguila, J., Sanhaji, H., Miladi, N., Maire, I., Caillaud, C., Kaabachi, N., Ben Dridi, M. F.
Published in Journal of inherited metabolic disease (01.12.2008)
Published in Journal of inherited metabolic disease (01.12.2008)
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Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8
Ausseil, J, Loredo-Osti, J C, Verner, A, Darmond-Zwaig, C, Maire, I, Poorthuis, B, van Diggelen, O P, Hudson, T J, Fujiwara, T M, Morgan, K, Pshezhetsky, A V
Published in Journal of medical genetics (01.12.2004)
Published in Journal of medical genetics (01.12.2004)
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Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families
Chkioua, L, Khedhiri, S, Jaidane, Z, Ferchichi, S, Habib, S, Froissart, R, Bonnet, V, Chaabouni, M, Dandana, A, Jrad, T, Limem, H, Maire, I, Abdelhedi, M, Laradi, S
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.10.2007)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.10.2007)
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M.P.2.07 Dilatative arteriopathy and basilar artery aneurysm complicating late-onset Pompe disease
Laforêt, P, Petiot, P, Orlikowski, D, Petitjean, T, Pellegrini, N, Caillaud, C, Maire, I, Nicolino, M, Annane, D, Eymard, B
Published in Neuromuscular disorders : NMD (2007)
Published in Neuromuscular disorders : NMD (2007)
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MPS II in females: molecular basis of two different cases
CUDRY, STÉPHANE, TIGAUD, ISABELLE, FROISSART, ROSELINE, BONNET, VÉRONIQUE, MAIRE, IRÈNE, BOZON, DOMINIQUE
Published in Journal of medical genetics (01.10.2000)
Published in Journal of medical genetics (01.10.2000)
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Intérêt du dosage du globotriaosylcéramide urinaire pour le diagnostic et le suivi du traitement de la maladie de Fabry
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Conference Proceeding