Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)
Guffon, N, Pettazzoni, M, Pangaud, N, Garin, C, Lina-Granade, G, Plault, C, Mottolese, C, Froissart, R, Fouilhoux, A
Published in Orphanet journal of rare diseases (31.01.2021)
Published in Orphanet journal of rare diseases (31.01.2021)
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Multidisciplinary management of Hunter syndrome
Muenzer, Joseph, Beck, M, Eng, C M, Escolar, M L, Giugliani, R, Guffon, N H, Harmatz, P, Kamin, W, Kampmann, C, Koseoglu, S T, Link, B, Martin, R A, Molter, D W, Muñoz Rojas, M V, Ogilvie, J W, Parini, R, Ramaswami, U, Scarpa, M, Schwartz, I V, Wood, R E, Wraith, E
Published in Pediatrics (Evanston) (01.12.2009)
Published in Pediatrics (Evanston) (01.12.2009)
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Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group
Guffon, N., Tylki-Szymanska, A., Borgwardt, L., Lund, A.M., Gil-Campos, M., Parini, R., Hennermann, J.B.
Published in Molecular genetics and metabolism (01.04.2019)
Published in Molecular genetics and metabolism (01.04.2019)
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Journal Article
Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa
Hughes, D, Giugliani, R, Guffon, N, Jones, S A, Mengel, K E, Parini, R, Matousek, R, Hawley, S M, Quartel, A
Published in Orphanet journal of rare diseases (23.05.2017)
Published in Orphanet journal of rare diseases (23.05.2017)
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Journal Article
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
Harmatz, P., Hendriksz, C.J., Lampe, C., McGill, J.J., Parini, R., Leão-Teles, E., Valayannopoulos, V., Cole, T.J., Matousek, R., Graham, S., Guffon, N., Quartel, A.
Published in Molecular genetics and metabolism (01.09.2017)
Published in Molecular genetics and metabolism (01.09.2017)
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Journal Article
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
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
WILCOX, William R, BANIKAZEMI, Maryam, GUFFON, Nathalie, WALDEK, Stephen, LEE, Philip, LINTHORST, Gabor E, DESNICK, Robert J, GERMAIN, Dominique P
Published in American journal of human genetics (01.07.2004)
Published in American journal of human genetics (01.07.2004)
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Journal Article
Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study
Wraith, J.E., Guffon, N., Rohrbach, M., Hwu, W.L., Korenke, G.C., Bembi, B., Luzy, C., Giorgino, R., Sedel, F.
Published in Molecular genetics and metabolism (01.11.2009)
Published in Molecular genetics and metabolism (01.11.2009)
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Journal Article
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
Braunlin, E., Rosenfeld, H., Kampmann, C., Johnson, J., Beck, M., Giugliani, R., Guffon, N., Ketteridge, D., Sá Miranda, C. M., Scarpa, M., Schwartz, I. V., Leão Teles, E., Wraith, J. E., Barrios, P., Dias da Silva, E., Kurio, G., Richardson, M., Gildengorin, G., Hopwood, J. J., Imperiale, M., Schatz, A., Decker, C., Harmatz, P.
Published in Journal of inherited metabolic disease (01.03.2013)
Published in Journal of inherited metabolic disease (01.03.2013)
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Journal Article
Development of a taste-masked granule formulation of sodium phenylbutyrate adapted for paediatric use
Guffon, N, Kibleur, Y, Copalu, W, Tissen, C, Breitkreutz, J
Published in Archives of disease in childhood (01.06.2013)
Published in Archives of disease in childhood (01.06.2013)
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Journal Article
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency
Boutron, A., Acquaviva, C., Vianey-Saban, C., de Lonlay, P., de Baulny, H. Ogier, Guffon, N., Dobbelaere, D., Feillet, F., Labarthe, F., Lamireau, D., Cano, A., de Villemeur, T. Billette, Munnich, A., Saudubray, J.M., Rabier, D., Rigal, O., Brivet, M.
Published in Molecular genetics and metabolism (01.08.2011)
Published in Molecular genetics and metabolism (01.08.2011)
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Journal Article
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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Journal Article
Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study
Borgwardt, L., Dali, C. I., Fogh, J., Månsson, J. E., Olsen, K. J., Beck, H. C., Nielsen, K. G., Nielsen, L. H., Olsen, S. O. E., Riise Stensland, H. M. F., Nilssen, O., Wibrand, F., Thuesen, A. M., Pearl, T., Haugsted, U., Saftig, P., Blanz, J., Jones, S. A., Tylki-Szymanska, A., Guffon-Fouiloux, N., Beck, M., Lund, A. M.
Published in Journal of inherited metabolic disease (01.11.2013)
Published in Journal of inherited metabolic disease (01.11.2013)
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Journal Article
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
Hörster, F, Garbade, S. F, Zwickler, T, Aydin, H. I, Bodamer, O. A, Burlina, A. B, Das, A. M, De Klerk, J. B. C, Dionisi-Vici, C, Geb, S, Gökcay, G, Guffon, N, Maier, E. M, Morava, E, Walter, J. H, Schwahn, B, Wijburg, F. A, Lindner, M, Grünewald, S, Baumgartner, M. R, Kölker, S
Published in Journal of inherited metabolic disease (01.10.2009)
Published in Journal of inherited metabolic disease (01.10.2009)
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Journal Article
RECURRENCE OF POMPE DISEASE IN FIRST COUSINS
Lacombe, D, Thambo, J B, Fayon, M, Goizet, C, Guffon, N
Published in Genetic counseling (01.01.2015)
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Published in Genetic counseling (01.01.2015)
Journal Article
Ocular manifestations in patients affected by Morquio syndrome (MPS IV)
Couprie, J, Denis, P, Guffon, N, Reynes, N, Masset, H, Beby, F
Published in Journal francais d'ophtalmologie (01.11.2010)
Published in Journal francais d'ophtalmologie (01.11.2010)
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Journal Article
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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