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Sodi A, Germain DP, Bacherini D, Finocchio L, Pacini B, Marziali E, Lenzetti C, Tanini I, Koraichi F, Coriat C, Nencini P, Olivotto I, Virgili G, Rizzo S, Paques M.

Retina. 2019 Sep 23. doi: 10.1097/IAE.0000000000002648. [Epub ahead of print]


Response to Gurevich and colleagues: The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: a systematic literature review by a European panel of experts.

Germain DP, Falissard B, Hilz MJ, Spada M, Wanner C, Elliott PM.

Mol Genet Metab Rep. 2019 Jul 22;20:100493. doi: 10.1016/j.ymgmr.2019.100493. eCollection 2019 Sep. No abstract available.


Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.

Oliveira JP, Nowak A, Barbey F, Torres M, Nunes JP, Teixeira-E-Costa F, Carvalho F, Sampaio S, Tavares I, Pereira O, Soares AL, Carmona C, Cardoso MT, Jurca-Simina IE, Spada M, Ferreira S, Germain DP.

Eur J Med Genet. 2019 Jun 11:103703. doi: 10.1016/j.ejmg.2019.103703. [Epub ahead of print]


Why systematic literature reviews in Fabry disease should include all published evidence.

Elliott PM, Germain DP, Hilz MJ, Spada M, Wanner C, Falissard B.

Eur J Med Genet. 2019 Oct;62(10):103702. doi: 10.1016/j.ejmg.2019.103702. Epub 2019 Jun 10. Review.


Semen and male genital tract characteristics of patients with Fabry disease: the FERTIFABRY multicentre observational study.

Papaxanthos-Roche A, Maillard A, Chansel-Debordeaux L, Albert M, Patrat C, Lidove O, Germain DP, Perez P, Lacombe D.

Basic Clin Androl. 2019 May 15;29:7. doi: 10.1186/s12610-019-0088-4. eCollection 2019.


Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.

Germain DP, Fouilhoux A, Decramer S, Tardieu M, Pillet P, Fila M, Rivera S, Deschênes G, Lacombe D.

Clin Genet. 2019 Aug;96(2):107-117. doi: 10.1111/cge.13546. Epub 2019 Jun 6.


Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.

Ghali N, Baker D, Brady AF, Burrows N, Cervi E, Cilliers D, Frank M, Germain DP, Hulmes DJS, Jacquemont ML, Kannu P, Lefroy H, Legrand A, Pope FM, Robertson L, Vandersteen A, von Klemperer K, Warburton R, Whiteford M, van Dijk FS.

Genet Med. 2019 Sep;21(9):2081-2091. doi: 10.1038/s41436-019-0470-9. Epub 2019 Mar 6.


Fabry disease in cardiology practice: Literature review and expert point of view.

Hagège A, Réant P, Habib G, Damy T, Barone-Rochette G, Soulat G, Donal E, Germain DP.

Arch Cardiovasc Dis. 2019 Apr;112(4):278-287. doi: 10.1016/j.acvd.2019.01.002. Epub 2019 Feb 28. Review.


The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts.

Germain DP, Elliott PM, Falissard B, Fomin VV, Hilz MJ, Jovanovic A, Kantola I, Linhart A, Mignani R, Namdar M, Nowak A, Oliveira JP, Pieroni M, Viana-Baptista M, Wanner C, Spada M.

Mol Genet Metab Rep. 2019 Feb 6;19:100454. doi: 10.1016/j.ymgmr.2019.100454. eCollection 2019 Jun. Review.


Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.

Germain DP, Nicholls K, Giugliani R, Bichet DG, Hughes DA, Barisoni LM, Colvin RB, Jennette JC, Skuban N, Castelli JP, Benjamin E, Barth JA, Viereck C.

Genet Med. 2019 Sep;21(9):1987-1997. doi: 10.1038/s41436-019-0451-z. Epub 2019 Feb 6.


The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts.

Germain DP, Arad M, Burlina A, Elliott PM, Falissard B, Feldt-Rasmussen U, Hilz MJ, Hughes DA, Ortiz A, Wanner C, Weidemann F, Spada M.

Mol Genet Metab. 2019 Mar;126(3):224-235. doi: 10.1016/j.ymgme.2018.09.007. Epub 2018 Sep 27.


European expert consensus statement on therapeutic goals in Fabry disease.

Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ.

Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12. Review.


The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts.

Spada M, Baron R, Elliott PM, Falissard B, Hilz MJ, Monserrat L, Tøndel C, Tylki-Szymańska A, Wanner C, Germain DP.

Mol Genet Metab. 2019 Mar;126(3):212-223. doi: 10.1016/j.ymgme.2018.04.007. Epub 2018 Apr 26.


Therapeutic goals in Fabry disease: Recommendations of a European expert panel, based on current clinical evidence with enzyme replacement therapy.

Wanner C, Germain DP, Hilz MJ, Spada M, Falissard B, Elliott PM.

Mol Genet Metab. 2019 Mar;126(3):210-211. doi: 10.1016/j.ymgme.2018.04.004. Epub 2018 Apr 11. Review. No abstract available.


Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.

Germain DP, Brand E, Burlina A, Cecchi F, Garman SC, Kempf J, Laney DA, Linhart A, Maródi L, Nicholls K, Ortiz A, Pieruzzi F, Shankar SP, Waldek S, Wanner C, Jovanovic A.

Mol Genet Genomic Med. 2018 Apr 12. doi: 10.1002/mgg3.389. [Epub ahead of print]


Fabry disease revisited: Management and treatment recommendations for adult patients.

Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR.

Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Review.


The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.

Mortreux J, Busa T, Germain DP, Nadeau G, Puechberty J, Coubes C, Gatinois V, Cacciagli P, Duffourd Y, Pinard JM, Tevissen H, Villard L, Sanlaville D, Philip N, Missirian C.

Eur J Hum Genet. 2018 Jan;26(1):143-148. doi: 10.1038/s41431-017-0018-x. Epub 2017 Nov 29.


[Ehlers-Danlos syndromes].

Germain DP.

Ann Dermatol Venereol. 2017 Dec;144(12):744-758. doi: 10.1016/j.annder.2017.06.017. Epub 2017 Oct 9. French.


LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, Guffon N, Fouilhoux A, Germain DP, Levade T, Vianey-Saban C, Piraud M, Cheillan D.

PLoS One. 2017 Jul 27;12(7):e0181700. doi: 10.1371/journal.pone.0181700. eCollection 2017.


Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies.

Thurberg BL, Germain DP, Perretta F, Jurca-Simina IE, Politei JM.

Mol Genet Metab Rep. 2016 Oct 1;11:75-80. doi: 10.1016/j.ymgmr.2016.09.005. eCollection 2017 Jun.


Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.

Wilcox WR, Feldt-Rasmussen U, Martins AM, Ortiz A, Lemay RM, Jovanovic A, Germain DP, Varas C, Nicholls K, Weidemann F, Hopkin RJ.

JIMD Rep. 2018;38:45-51. doi: 10.1007/8904_2017_28. Epub 2017 May 17.


Pseudoxanthoma elasticum.

Germain DP.

Orphanet J Rare Dis. 2017 May 10;12(1):85. doi: 10.1186/s13023-017-0639-8. Review.


Clinical utility gene card for: Fabry disease - update 2016.

Gal A, Beck M, Höppner W, Germain DP.

Eur J Hum Genet. 2017 Jun;25(7):e1-e3. doi: 10.1038/ejhg.2017.17. Epub 2017 Mar 22. No abstract available.


Basilar Artery Changes in Fabry Disease.

Manara R, Carlier RY, Righetto S, Citton V, Locatelli G, Colas F, Ermani M, Germain DP, Burlina A.

AJNR Am J Neuroradiol. 2017 Mar;38(3):531-536. doi: 10.3174/ajnr.A5069. Epub 2017 Jan 26.


Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.

Legrand A, Cornez L, Samkari W, Mazzella JM, Venisse A, Boccio V, Auribault K, Keren B, Benistan K, Germain DP, Frank M, Jeunemaitre X, Albuisson J.

Genet Med. 2017 Aug;19(8):909-917. doi: 10.1038/gim.2016.213. Epub 2017 Jan 19.


Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U.

J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. Erratum in: J Med Genet. 2018 Apr 16;:.


The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

Benjamin ER, Della Valle MC, Wu X, Katz E, Pruthi F, Bond S, Bronfin B, Williams H, Yu J, Bichet DG, Germain DP, Giugliani R, Hughes D, Schiffmann R, Wilcox WR, Desnick RJ, Kirk J, Barth J, Barlow C, Valenzano KJ, Castelli J, Lockhart DJ.

Genet Med. 2017 Apr;19(4):430-438. doi: 10.1038/gim.2016.122. Epub 2016 Sep 22.


Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R.

N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198.


Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.

Politei JM, Bouhassira D, Germain DP, Goizet C, Guerrero-Sola A, Hilz MJ, Hutton EJ, Karaa A, Liguori R, Üçeyler N, Zeltzer LK, Burlina A.

CNS Neurosci Ther. 2016 Jul;22(7):568-76. doi: 10.1111/cns.12542. Epub 2016 Mar 28.


Determinants of white matter hyperintensity burden in patients with Fabry disease.

Rost NS, Cloonan L, Kanakis AS, Fitzpatrick KM, Azzariti DR, Clarke V, Lourenco CM, Germain DP, Politei JM, Homola GA, Sommer C, Üçeyler N, Sims KB.

Neurology. 2016 May 17;86(20):1880-6. doi: 10.1212/WNL.0000000000002673. Epub 2016 Apr 20.


Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry.

Ortiz A, Abiose A, Bichet DG, Cabrera G, Charrow J, Germain DP, Hopkin RJ, Jovanovic A, Linhart A, Maruti SS, Mauer M, Oliveira JP, Patel MR, Politei J, Waldek S, Wanner C, Yoo HW, Warnock DG.

J Med Genet. 2016 Jul;53(7):495-502. doi: 10.1136/jmedgenet-2015-103486. Epub 2016 Mar 18.


Enzymatic diagnosis of Fabry disease using a fluorometric assay on dried blood spots: An alternative methodology.

Caudron E, Prognon P, Germain DP.

Eur J Med Genet. 2015 Dec;58(12):681-4. doi: 10.1016/j.ejmg.2015.10.014. Epub 2015 Oct 28.


X-chromosome inactivation in female patients with Fabry disease.

Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, Jabbour F, Beldjord C, De Mazancourt P, Germain DP.

Clin Genet. 2016 Jan;89(1):44-54. doi: 10.1111/cge.12613. Epub 2015 Jun 22.


Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.

Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, Feldt-Rasmussen U, Geberhiwot T, Germain DP, Hendriksz C, Hughes DA, Kantola I, Karabul N, Lavery C, Linthorst GE, Mehta A, van de Mheen E, Oliveira JP, Parini R, Ramaswami U, Rudnicki M, Serra A, Sommer C, Sunder-Plassmann G, Svarstad E, Sweeb A, Terryn W, Tylki-Szymanska A, Tøndel C, Vujkovac B, Weidemann F, Wijburg FA, Woolfson P, Hollak CE.

Orphanet J Rare Dis. 2015 Mar 27;10:36. doi: 10.1186/s13023-015-0253-6.


Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.

El Khattabi L, Jaillard S, Andrieux J, Pasquier L, Perrin L, Capri Y, Benmansour A, Toutain A, Marcorelles P, Vincent-Delorme C, Journel H, Henry C, De Barace C, Devisme L, Dubourg C, Demurger F, Lucas J, Belaud-Rotureau MA, Amiel J, Malan V, De Blois MC, De Pontual L, Lebbar A, Le Dû N, Germain DP, Pinard JM, Pipiras E, Tabet AC, Aboura A, Verloes A.

Am J Med Genet A. 2015 Jun;167(6):1252-61. doi: 10.1002/ajmg.a.36932. Epub 2015 Apr 2. Review.


Coronary CT angiography for chest pain in pseudoxanthoma elasticum and cardiac intervention management.

Karam C, Soulat G, Germain DP, Lacombe P, Dubourg O.

J Cardiovasc Comput Tomogr. 2015 May-Jun;9(3):238-41. doi: 10.1016/j.jcct.2015.02.004. Epub 2015 Feb 19.


Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.

Hankiewicz K, Carlier RY, Lazaro L, Linzoain J, Barnerias C, Gómez-Andrés D, Avila-Smirnow D, Ferreiro A, Estournet B, Guicheney P, Germain DP, Richard P, Bulacio S, Mompoint D, Quijano-Roy S.

Muscle Nerve. 2015 Nov;52(5):728-35. doi: 10.1002/mus.24634. Epub 2015 Sep 14.


Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.

Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR.

J Med Genet. 2015 May;52(5):353-8. doi: 10.1136/jmedgenet-2014-102797. Epub 2015 Mar 20.


Adult patients with Fabry disease: what does the cardiologist need to know?

Hagège AA, Germain DP.

Heart. 2015 Jun;101(12):916-8. doi: 10.1136/heartjnl-2015-307472. Epub 2015 Mar 11. No abstract available.


Raynaud's phenomenon associated with Fabry disease.

Germain DP, Atanasiu OI, Akrout-Marouene J, Benistan K.

J Inherit Metab Dis. 2015 Mar;38(2):367-8. doi: 10.1007/s10545-014-9799-z. Epub 2014 Dec 16. No abstract available.


The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.

Ferreira S, Ortiz A, Germain DP, Viana-Baptista M, Caldeira-Gomes A, Camprecios M, Fenollar-Cortés M, Gallegos-Villalobos Á, Garcia D, García-Robles JA, Egido J, Gutiérrez-Rivas E, Herrero JA, Mas S, Oancea R, Péres P, Salazar-Martín LM, Solera-Garcia J, Alves H, Garman SC, Oliveira JP.

Mol Genet Metab. 2015 Feb;114(2):248-58. doi: 10.1016/j.ymgme.2014.11.004. Epub 2014 Nov 9.


Familial occurrence and heritable connective tissue disorders in cervical artery dissection.

Debette S, Goeggel Simonetti B, Schilling S, Martin JJ, Kloss M, Sarikaya H, Hausser I, Engelter S, Metso TM, Pezzini A, Thijs V, Touzé E, Paolucci S, Costa P, Sessa M, Samson Y, Béjot Y, Altintas A, Metso AJ, Hervé D, Lichy C, Jung S, Fischer U, Lamy C, Grau A, Chabriat H, Caso V, Lyrer PA, Stapf C, Tatlisumak T, Brandt T, Tournier-Lasserve E, Germain DP, Frank M, Baumgartner RW, Grond-Ginsbach C, Bousser MG, Leys D, Dallongeville J, Bersano A, Arnold M; CADISP-plus consortium.

Neurology. 2014 Nov 25;83(22):2023-31. doi: 10.1212/WNL.0000000000001027. Epub 2014 Oct 29. Erratum in: Neurology. 2016 Dec 6;87(23 ):2500.


Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.

Auray-Blais C, Blais CM, Ramaswami U, Boutin M, Germain DP, Dyack S, Bodamer O, Pintos-Morell G, Clarke JT, Bichet DG, Warnock DG, Echevarria L, West ML, Lavoie P.

Clin Chim Acta. 2015 Jan 1;438:195-204. doi: 10.1016/j.cca.2014.08.002. Epub 2014 Aug 19.


Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

Bolocan A, Quijano-Roy S, Seferian AM, Baumann C, Allamand V, Richard P, Estournet B, Carlier R, Cavé H, Gartioux C, Blin N, Le Moing AG, Gidaro T, Germain DP, Fardeau M, Voit T, Servais L, Romero NB.

Neuromuscul Disord. 2014 Nov;24(11):993-8. doi: 10.1016/j.nmd.2014.06.437. Epub 2014 Jun 28.


[Genetic aspects of mucopolysaccharidoses].

Lacombe D, Germain DP.

Arch Pediatr. 2014 Jun;21 Suppl 1:S22-6. doi: 10.1016/S0929-693X(14)72255-9. Review. French.


Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 Patients.

Orssaud C, Roche O, Dufier JL, Germain DP.

Ophthalmic Genet. 2015;36(4):327-32. doi: 10.3109/13816810.2014.886268. Epub 2014 Apr 21.


Neurologic manifestations of inherited disorders of connective tissue.

Debette S, Germain DP.

Handb Clin Neurol. 2014;119:565-76. doi: 10.1016/B978-0-7020-4086-3.00037-0. Review.


[Pharmacological chaperons: a novel therapeutic approach for genetic diseases].

Germain DP, Benistan K, Echevarria L.

Med Sci (Paris). 2013 Jun-Jul;29(6-7):579-82. doi: 10.1051/medsci/2013296009. Epub 2013 Jul 12. French. No abstract available.


Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry.

Germain DP, Weidemann F, Abiose A, Patel MR, Cizmarik M, Cole JA, Beitner-Johnson D, Benistan K, Cabrera G, Charrow J, Kantola I, Linhart A, Nicholls K, Niemann M, Scott CR, Sims K, Waldek S, Warnock DG, Strotmann J; Fabry Registry.

Genet Med. 2013 Dec;15(12):958-65. doi: 10.1038/gim.2013.53. Epub 2013 May 23.


A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects.

Giugliani R, Waldek S, Germain DP, Nicholls K, Bichet DG, Simosky JK, Bragat AC, Castelli JP, Benjamin ER, Boudes PF.

Mol Genet Metab. 2013 May;109(1):86-92. doi: 10.1016/j.ymgme.2013.01.009. Epub 2013 Jan 26.

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