Search Results - "Germain, D.P."

P23—New Guidelines for the Evaluation and Management of Fabry Disease in Children by Tylki-Szymanska, A, Hopkin, R.J, Banikazemi, M, Germain, D.P, Mauer, M, Warnock, D.G, Wilcox, W.A

“…Results The general types of assessments recommended for children with FD include: medical/family history (gastrointestinal, pain, sweating; heat/cold…”
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X-linked inheritance and its implication in the diagnosis and management of female patients in Fabry disease by Germain, D.P., Benistan, K., Angelova, L.

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P24—Prognostic Indicators of Renal Disease Progression: Natural History Data From the Fabry Registry by Wanner, C, Oliveira, J.P, Ortiz, A, Mauer, M, Germain, D.P, Linthorst, G.E, Serra, A.L, Maródi, L, Mignani, R, Cianciaruso, B, Vujkovac, B, Lemay, R, Beitner-Johnson, D, Waldek, S, Warnock, D.G

“…Aim and Methods Longitudinal data from adult patients in the Fabry Registry were analyzed to characterize changes in kidney function over time during the…”
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Long-term agalsidase beta therapy is associated with improvements in pain and quality of life among patients with Fabry disease by Guffon, N, Germain, D.P, Waldek, S, Banikazemi, M, Bushinsky, D.A, Charrow, J, Lee, P, Loew, T, Vedder, A.C, Wilcox, W.R

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Fabrazyme® therapy in pediatric patients with Fabry disease: Improvements in quality-of-life measures by Tylki-Szymanska, A, Germain, D.P, Wraith, J.E, Guffon, N, Lien, Y.H, Tsimaratos, M, Vellodi, A

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X-chromosome inactivation in female patients with Fabry disease by Echevarria, L., Benistan, K., Toussaint, A., Dubourg, O., Hagege, A.A., Eladari, D., Jabbour, F., Beldjord, C., De Mazancourt, P., Germain, D.P.

“…Fabry disease (FD) is an X‐linked genetic disorder caused by the deficient activity of lysosomal α‐galactosidase (α‐Gal). While males are usually severely…”
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A Pressure-Independent Arterial Remodelling and Aorta Dilatation in Treated Patients With Fabry Disease by Collin, C, Bensalah, M, Beaussier, H, Germain, D.P, Bozec, E, Mousseaux, E, Laurent, S, Boutouyrie, P

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3.4 A Pressure-Independent Arterial Remodelling and Aorta Dilatation in Treated Patients with Fabry Disease by Collin, C., Bensalah, M., Beaussier, H., Germain, D. P., Bozec, E., Mousseaux, E., Laurent, S., Boutouyrie, P.

“…Purpose Fabry disease is a deficiency of lysosomal enzyme a-galactosidase A leading to accumulation of glycosphyngolipids in cardiac and vascular tissues…”
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Characteristics of Patients With Late Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022 by LEFEUVRE, CLAIRE, ANTONIO, MARIE DE, BOUHOUR, FRANCOISE, TARD, CELINE, SALORT-CAMPANA, EMMANUELLE, LAGRANGE, EMMELINE, BEHIN, ANTHONY, SOLE, GUILHEM, NOURY, JEAN-BAPTISTE, Sacconi, Sabrina, MAGOT, ARMELLE, NADAJ-PAKLEZA, ALEKSANDRA, LACOUR, ARNAUD, BELTRAN, STEPHANE, SPINAZZI, MARCO, CINTAS, PASCAL, RENARD, DIMITRI, Michaud, Maud, BEDAT-MILLET, ANNE-LAURE, PRIGENT, HELENE, TAOUAGH, NADJIB, ARRASSI, AZZEDDINE, HAMROUN, DALIL, Attarian, Shahram, Laforêt, Pascal

“…The French Pompe disease registry was created in 2004 for study of the natural course of the disease in patients. It rapidly became a major tool for assessing…”
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Fabry disease: a review of current management strategies by Mehta, A., Beck, M., Eyskens, F., Feliciani, C., Kantola, I., Ramaswami, U., Rolfs, A., Rivera, A., Waldek, S., Germain, D.P.

“…Fabry disease is an X-linked inherited condition due to the absence or reduction of α-galactosidase activity in lysosomes, that results in accumulation of…”
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Basilar Artery Changes in Fabry Disease by Manara, R, Carlier, R Y, Righetto, S, Citton, V, Locatelli, G, Colas, F, Ermani, M, Germain, D P, Burlina, A

“…Dolichoectasia of the basilar artery is a characteristic finding of Fabry disease. However, its prevalence, severity, and course have been poorly studied. This…”
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First results of a head-to-head trial of pegunigalsidase alfa vs. agalsidase beta in Fabry disease: 2 year results of the phase 3 randomized, double-blind, BALANCE study by Wallace, Eric, Goker-Alpan, Wilcox, Holida, Bernat, Longo, N., Hughes, D., Giraldo, P., Molnar, M.J., Ortiz, Hopkin, Tøndel, C., Linhart, A., Deegan, Jovanovic, Muriello, M., Barshop, Kimonis, Vujkovac, B., Nowak, A., Geberhiwot, T., Pisani, A., Germain, D.P., Kantola, I., Knoll, J., Mehta, Ankit, Waldek, Stephen, Chertkoff, Raul, Almon, Einat, Alon, Sari, Rocco, Rossana, Warnock, David G.

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Screening for Fabry disease in male patients with end-stage renal disease in western France by Vigneau, C., Germain, D.P., Larmet, D., Jabbour, F., Hourmant, M.

“…Fabry disease is a rare X-linked genetic disease due to pathogenic variants in the GLA gene. Classic Fabry disease is characterized by glycosphingolipids…”
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The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies by Ferreira, Susana, Ortiz, Alberto, Germain, Dominique P., Viana-Baptista, Miguel, Caldeira-Gomes, António, Camprecios, Marta, Fenollar-Cortés, Maria, Gallegos-Villalobos, Ángel, Garcia, Diego, García-Robles, José Antonio, Egido, Jesús, Gutiérrez-Rivas, Eduardo, Herrero, José Antonio, Mas, Sebastián, Oancea, Raluca, Péres, Paloma, Salazar-Martín, Luis Manuel, Solera-Garcia, Jesús, Alves, Helena, Garman, Scott C., Oliveira, João Paulo

“…Lysosomal α-galactosidase A (α-Gal) is the enzyme deficient in Fabry disease (FD), an X-linked glycosphingolipidosis caused by pathogenic mutations affecting…”
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A Phase 2 study of migalastat hydrochloride in females with Fabry disease: Selection of population, safety and pharmacodynamic effects by Giugliani, R., Waldek, S., Germain, D.P., Nicholls, K., Bichet, D.G., Simosky, J.K., Bragat, A.C., Castelli, J.P., Benjamin, E.R., Boudes, P.F.

“…Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A) which leads to globotriaosylceramide…”
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Maladie de Fabry en cardiologie revue de la littérature et point de vue d'experts [Fabry disease in cardiology practice Literature review and expert point of view] by Hagège, Albert, Réant, P., Habib, G., Damy, T., Barone-Rochette, G., Soulat, Gilles, Donal, Erwan, Germain, D.P.

“…Fabry disease is an X-linked progressive multisystemic genetic sphingolipidosis caused by deficient activity of lysosomal α-galactosidase A. Men aged > 30…”
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Génétique des mucopolysaccharidoses by Lacombe, D., Germain, D.P.

“…Les mucopolysaccharidoses sont des maladies héréditaires du métabolisme dues à des mutations des gènes codant pour l’une des onze enzymes impliquées dans le…”
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Données de vie réelle sur les caractéristiques des patients, l’utilisation des ressources de santé et les coûts associés chez les patients atteints de la maladie de Fabry en France by Lefevre, C., Germain, D.P., Chaize, G., Raguideau, F., Favre, F., Nucit, A., Laurent, M., Malcles, M.

“…La maladie de Fabry (MF) est une maladie lysosomale rare causée par un déficit en alpha-galactosidase. Les objectifs de l’étude étaient de décrire les…”
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Commentary by Koletzko, B, Germain, D.P

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Troisièmes rencontres multidisciplinaires sur la maladie de Fabry by Germain, D.P.

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