Search Results - "Guffon, N."

Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT) by Guffon, N, Pettazzoni, M, Pangaud, N, Garin, C, Lina-Granade, G, Plault, C, Mottolese, C, Froissart, R, Fouilhoux, A

“…Mucopolysaccharidosis type I-Hurler syndrome (MPSI-H) is a lysosomal storage disease characterized by severe physical symptoms and cognitive decline. Early…”
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Multidisciplinary Management of Hunter Syndrome by 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, Munoz Rojas, M. V, Ogilvie, J. W, Parini, R, Ramaswami, U, Scarpa, M, Schwartz, I. V, Wood, R. E, Wraith, E

“…Hunter syndrome is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. In the absence of sufficient enzyme…”
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Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group by Guffon, N., Tylki-Szymanska, A., Borgwardt, L., Lund, A.M., Gil-Campos, M., Parini, R., Hennermann, J.B.

“…Alpha-mannosidosis is an ultra-rare progressive lysosomal storage disorder caused by deficiency of alpha-mannosidase. Timely diagnosis of the disease has the…”
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Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa by Hughes, D, Giugliani, R, Guffon, N, Jones, S A, Mengel, K E, Parini, R, Matousek, R, Hawley, S M, Quartel, A

“…This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with…”
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The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) by 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.

“…Mucopolysaccharidosis (MPS) VI is an autosomal recessive lysosomal storage disorder arising from deficient activity of N-acetylgalactosamine-4-sulfatase…”
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NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients by Masurel-Paulet, A., Poggi-Bach, J., Rolland, M.-O., Bernard, O., Guffon, N., Dobbelaere, D., Sarles, J., de Baulny, H. Ogier, Touati, G.

“…Summary We describe a retrospective study of long-term outcome of 46 patients treated and regularly followed in France with…”
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Clinical presentation in female patients with Fabry disease by Guffon, N

“…[...]female carriers are essentially a mosaic of normal and mutant cells in varying proportions. 6 In view of this, a review of the medical records of 11…”
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Long-term safety and efficacy of enzyme replacement therapy for Fabry disease by WILCOX, William R, BANIKAZEMI, Maryam, GUFFON, Nathalie, WALDEK, Stephen, LEE, Philip, LINTHORST, Gabor E, DESNICK, Robert J, GERMAIN, Dominique P

“…Elsewhere, we reported the safety and efficacy results of a multicenter phase 3 trial of recombinant human alpha -galactosidase A (rh-alpha GalA) replacement…”
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Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study by Wraith, J.E., Guffon, N., Rohrbach, M., Hwu, W.L., Korenke, G.C., Bembi, B., Luzy, C., Giorgino, R., Sedel, F.

“…Niemann-Pick disease type C (NP-C) is a devastating genetic disorder characterised by progressive neurological deterioration. However, data on the progression…”
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Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy by 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.

“…Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with mucopolysaccharidosis type VI (MPS VI)…”
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Development of a taste-masked granule formulation of sodium phenylbutyrate adapted for paediatric use by Guffon, N, Kibleur, Y, Copalu, W, Tissen, C, Breitkreutz, J

“…Background Sodium phenylbutyrate (NaPB), a treatment for urea cycle disorders, has an extremely unpleasant, bitter taste which can compromise compliance and…”
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Clinical benefit in Fabry patients given enzyme replacement therapy—A case series by Guffon, N., Fouilhoux, A.

“…Fabry disease is a rare lysosomal storage disorder resulting from deficient activity of α‐galactosidase A and subsequent pathological accumulation of…”
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Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency by 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.

“…Deficiency of mitochondrial trifunctional protein (MTP) is caused by mutations in the HADHA and HADHB genes, which have been mostly delineated at the genomic…”
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Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study by 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.

“…Background Alpha-mannosidosis (OMIM 248500) is a rare lysosomal storage disease (LSD) caused by alpha-mannosidase deficiency. Manifestations include…”
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Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources by 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

“…Over the last 15 years, we have performed a total of 30 haematopoietic stem cell transplants on 27 children suffering from Hurler's syndrome. These children…”
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Gaucher disease and chitotriosidase by Guffon, N.

“…L'évolution de la chitotriosidase a été étudiée chez 4 patients atteints dé maladie de Gaucher de type 1 en cours de traitement ou lors de modifications de…”
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Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters by 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

“…Objectives Isolated methylmalonic acidurias (MMAurias) are caused by deficiency of methylmalonyl-CoA mutase or by defects in the synthesis of its cofactor…”
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RECURRENCE OF POMPE DISEASE IN FIRST COUSINS by Lacombe, D, Thambo, J B, Fayon, M, Goizet, C, Guffon, N

“…We report on the cases of two first-degree non-consanguineous cousins with infantile-onset Pompe disease, a rare autosomal recessive disease. The first patient…”
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Ocular manifestations in patients affected by Morquio syndrome (MPS IV) by Couprie, J, Denis, P, Guffon, N, Reynes, N, Masset, H, Beby, F

“…The purpose of this study was to investigate the ocular manifestations in patients suffering from Morquio syndrome. We reviewed the hospital records of 20…”
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Follow-up of nine patients with Hurler syndrome after bone marrow transplantation by Guffon, N., Souillet, G., Maire, I., Straczek, J., Guibaud, P.

“…We report our experience in nine patients with Hurler syndrome (six with a severe and three with an intermediate phenotype) who successfully engrafted after…”
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