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Items: 1 to 20 of 63

1.

Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy.

Fall B, Scott CR, Mauer M, Shankland S, Pippin J, Jefferson JA, Wallace E, Warnock D, Najafian B.

PLoS One. 2016 Dec 16;11(12):e0168346. doi: 10.1371/journal.pone.0168346. eCollection 2016.

2.

The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.

Citro V, Cammisa M, Liguori L, Cimmaruta C, Lukas J, Cubellis MV, Andreotti G.

Int J Mol Sci. 2016 Dec 1;17(12). pii: E2010. Review.

3.

Myocardial lipid content in Fabry disease: a combined 1H-MR spectroscopy and MR imaging study at 3 Tesla.

Petritsch B, Köstler H, Weng AM, Horn M, Gassenmaier T, Kunz AS, Weidemann F, Wanner C, Bley TA, Beer M.

BMC Cardiovasc Disord. 2016 Oct 28;16(1):205.

4.

Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.

Lenders M, Hennermann JB, Kurschat C, Rolfs A, Canaan-Kühl S, Sommer C, Üçeyler N, Kampmann C, Karabul N, Giese AK, Duning T, Stypmann J, Krämer J, Weidemann F, Brand SM, Wanner C, Brand E.

Orphanet J Rare Dis. 2016 Jun 29;11(1):88. doi: 10.1186/s13023-016-0473-4.

5.

One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease.

Najafian B, Tøndel C, Svarstad E, Sokolovkiy A, Smith K, Mauer M.

PLoS One. 2016 Apr 15;11(4):e0152812. doi: 10.1371/journal.pone.0152812. eCollection 2016.

6.

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.

7.

Gastrointestinal Symptoms of Patients with Fabry Disease.

Pensabene L, Sestito S, Nicoletti A, Graziano F, Strisciuglio P, Concolino D.

Gastroenterol Res Pract. 2016;2016:9712831. doi: 10.1155/2016/9712831. Epub 2015 Dec 31.

8.

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy.

de Greef BT, Hoeijmakers JG, Wolters EE, Smeets HJ, van den Wijngaard A, Merkies IS, Faber CG, Gerrits MM.

PLoS One. 2016 Feb 11;11(2):e0148316. doi: 10.1371/journal.pone.0148316. eCollection 2016.

9.

Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy.

Warnock DG, Thomas CP, Vujkovac B, Campbell RC, Charrow J, Laney DA, Jackson LL, Wilcox WR, Wanner C.

J Med Genet. 2015 Dec;52(12):860-6. doi: 10.1136/jmedgenet-2015-103471. Epub 2015 Oct 21.

10.

Quality of life in patients with Fabry disease: a systematic review of the literature.

Arends M, Hollak CE, Biegstraaten M.

Orphanet J Rare Dis. 2015 Jun 16;10:77. doi: 10.1186/s13023-015-0296-8. Review.

11.

Fabry disease: the many faces of a single disorder.

Torra R, Ortíz A.

Clin Kidney J. 2012 Oct;5(5):379-82. doi: 10.1093/ckj/sfs124. No abstract available.

12.

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

Wijburg FA, Bénichou B, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini C, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymańska A, Ramaswami U.

PLoS One. 2015 May 8;10(5):e0124987. doi: 10.1371/journal.pone.0124987. eCollection 2015.

13.

Isolated microalbuminuria as the first clinical presentation of Fabry disease in an adult heterozygous female.

Mignani R, Preda P, Granata A, Maldini L, De Giovanni P, Montevecchi M, Rigotti A, Cagnoli L.

NDT Plus. 2009 Dec;2(6):455-7. doi: 10.1093/ndtplus/sfp104. Epub 2009 Aug 11.

14.

Efficacy of Enzyme and Substrate Reduction Therapy with a Novel Antagonist of Glucosylceramide Synthase for Fabry Disease.

Ashe KM, Budman E, Bangari DS, Siegel CS, Nietupski JB, Wang B, Desnick RJ, Scheule RK, Leonard JP, Cheng SH, Marshall J.

Mol Med. 2015 Apr 30;21:389-99. doi: 10.2119/molmed.2015.00088.

15.

Coformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry Mice.

Xu S, Lun Y, Brignol N, Hamler R, Schilling A, Frascella M, Sullivan S, Boyd RE, Chang K, Soska R, Garcia A, Feng J, Yasukawa H, Shardlow C, Churchill A, Ketkar A, Robertson N, Miyamoto M, Mihara K, Benjamin ER, Lockhart DJ, Hirato T, Fowles S, Valenzano KJ, Khanna R.

Mol Ther. 2015 Jul;23(7):1169-81. doi: 10.1038/mt.2015.87. Epub 2015 Apr 27.

16.

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.

17.

Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase Alfa.

Goker-Alpan O, Nedd K, Shankar SP, Lien YH, Weinreb N, Wijatyk A, Chang P, Martin R.

JIMD Rep. 2015;23:7-15. doi: 10.1007/8904_2015_422. Epub 2015 Mar 31.

18.

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.

19.

Carboxyl-terminal truncations alter the activity of the human α-galactosidase A.

Meghdari M, Gao N, Abdullahi A, Stokes E, Calhoun DH.

PLoS One. 2015 Feb 26;10(2):e0118341. doi: 10.1371/journal.pone.0118341. eCollection 2015.

20.

Innate and Adaptive Immune Response in Fabry Disease.

Mauhin W, Lidove O, Masat E, Mingozzi F, Mariampillai K, Ziza JM, Benveniste O.

JIMD Rep. 2015;22:1-10. doi: 10.1007/8904_2014_371. Epub 2015 Feb 18.

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