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Items: 1 to 20 of 132

1.

Drug delivery in overcoming the blood-brain barrier: role of nasal mucosal grafting.

Marianecci C, Rinaldi F, Hanieh PN, Di Marzio L, Paolino D, Carafa M.

Drug Des Devel Ther. 2017 Jan 27;11:325-335. doi: 10.2147/DDDT.S100075. eCollection 2017. Review.

2.

Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation.

Cho SC, Yoo HW, Lee JW, Jang JY, Heo R, Song JM.

J Cardiovasc Ultrasound. 2016 Dec;24(4):324-328. doi: 10.4250/jcu.2016.24.4.324. Epub 2016 Dec 28.

3.

Genetics and Genomics of Single-Gene Cardiovascular Diseases: Common Hereditary Cardiomyopathies as Prototypes of Single-Gene Disorders.

Marian AJ, van Rooij E, Roberts R.

J Am Coll Cardiol. 2016 Dec 27;68(25):2831-2849. doi: 10.1016/j.jacc.2016.09.968. Review.

PMID:
28007145
4.

Using CRISPR/Cas9-Mediated GLA Gene Knockout as an In Vitro Drug Screening Model for Fabry Disease.

Song HY, Chiang HC, Tseng WL, Wu P, Chien CS, Leu HB, Yang YP, Wang ML, Jong YJ, Chen CH, Yu WC, Chiou SH.

Int J Mol Sci. 2016 Dec 13;17(12). pii: E2089.

5.

Lysosomal Re-acidification Prevents Lysosphingolipid-Induced Lysosomal Impairment and Cellular Toxicity.

Folts CJ, Scott-Hewitt N, Pröschel C, Mayer-Pröschel M, Noble M.

PLoS Biol. 2016 Dec 15;14(12):e1002583. doi: 10.1371/journal.pbio.1002583. eCollection 2016 Dec.

6.

Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients.

de Alencar DO, Netto C, Ashton-Prolla P, Giugliani R, Ribeiro-Dos-Santos Â, Pereira F, Matte U, Santos N, Santos S.

Mol Genet Metab Rep. 2014 Sep 26;1:414-421. eCollection 2014.

8.

FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease.

Mignani R, Pieruzzi F, Berri F, Burlina A, Chinea B, Gallieni M, Pieroni M, Salviati A, Spada M.

Clin Kidney J. 2016 Oct;9(5):739-47. doi: 10.1093/ckj/sfw082. Epub 2016 Sep 9.

9.

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.

10.

An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy.

Goker-Alpan O, Longo N, McDonald M, Shankar SP, Schiffmann R, Chang P, Shen Y, Pano A.

Drug Des Devel Ther. 2016 May 25;10:1771-81. doi: 10.2147/DDDT.S102761. eCollection 2016.

11.

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.

12.

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.

13.

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis.

Beck M, Hughes D, Kampmann C, Larroque S, Mehta A, Pintos-Morell G, Ramaswami U, West M, Wijatyk A, Giugliani R; Fabry Outcome Survey Study Group..

Mol Genet Metab Rep. 2015 Mar 5;3:21-7. doi: 10.1016/j.ymgmr.2015.02.002. eCollection 2015 Jun.

14.

Pain management strategies for neuropathic pain in Fabry disease--a systematic review.

Schuller Y, Linthorst GE, Hollak CE, Van Schaik IN, Biegstraaten M.

BMC Neurol. 2016 Feb 24;16:25. doi: 10.1186/s12883-016-0549-8. Review. Erratum in: BMC Neurol. 2016;16:67.

15.

A Novel Rapid MALDI-TOF-MS-Based Method for Measuring Urinary Globotriaosylceramide in Fabry Patients.

Alharbi FJ, Geberhiwot T, Hughes DA, Ward DG.

J Am Soc Mass Spectrom. 2016 Apr;27(4):719-25. doi: 10.1007/s13361-015-1318-4. Epub 2016 Jan 21.

16.

Positron Emission Tomography and Magnetic Resonance Imaging of the Brain in Fabry Disease: A Nationwide, Long-Time, Prospective Follow-Up.

Korsholm K, Feldt-Rasmussen U, Granqvist H, Højgaard L, Bollinger B, Rasmussen AK, Law I.

PLoS One. 2015 Dec 2;10(12):e0143940. doi: 10.1371/journal.pone.0143940. eCollection 2015.

17.

Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment.

Kampmann C, Perrin A, Beck M.

Orphanet J Rare Dis. 2015 Sep 29;10:125. doi: 10.1186/s13023-015-0338-2. Erratum in: Orphanet J Rare Dis. 2016;11(1):95.

18.

Mannose receptor-mediated delivery of moss-made α-galactosidase A efficiently corrects enzyme deficiency in Fabry mice.

Shen JS, Busch A, Day TS, Meng XL, Yu CI, Dabrowska-Schlepp P, Fode B, Niederkrüger H, Forni S, Chen S, Schiffmann R, Frischmuth T, Schaaf A.

J Inherit Metab Dis. 2016 Mar;39(2):293-303. doi: 10.1007/s10545-015-9886-9. Epub 2015 Aug 27.

19.

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.

Warnock DG, Bichet DG, Holida M, Goker-Alpan O, Nicholls K, Thomas M, Eyskens F, Shankar S, Adera M, Sitaraman S, Khanna R, Flanagan JJ, Wustman BA, Barth J, Barlow C, Valenzano KJ, Lockhart DJ, Boudes P, Johnson FK.

PLoS One. 2015 Aug 7;10(8):e0134341. doi: 10.1371/journal.pone.0134341. eCollection 2015.

20.

5p deletions: Current knowledge and future directions.

Nguyen JM, Qualmann KJ, Okashah R, Reilly A, Alexeyev MF, Campbell DJ.

Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):224-38. doi: 10.1002/ajmg.c.31444. Epub 2015 Aug 3. Review.

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