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Items: 1 to 20 of 40

1.

COMPUTER ASSISTED RETINAL VESSEL TORTUOSITY EVALUATION IN NOVEL MUTATION FABRY DISEASE: Towards New Prognostic Markers.

San Román I, Rodríguez ME, Caporossi O, Zoppetti C, Sodi A, Mecocci A, López D, Rodríguez B, Gimeno JR.

Retina. 2017 Mar;37(3):592-603. doi: 10.1097/IAE.0000000000001177.

PMID:
28225726
2.

Life-threatening bleeding from gastric mucosal angiokeratomas during anticoagulation: A case report of Fabry disease.

Kang E, Kim YM, Kim DH, Yoo HW, Lee BH.

Medicine (Baltimore). 2017 Feb;96(6):e6063. doi: 10.1097/MD.0000000000006063.

3.

A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation.

Lee HJ, Hsu TR, Hung SC, Yu WC, Chu TH, Yang CF, Bizjajeva S, Tiu CM, Niu DM.

BMC Neurol. 2017 Feb 6;17(1):25. doi: 10.1186/s12883-017-0810-9.

4.

Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease.

Shen JS, Arning E, West ML, Day TS, Chen S, Meng XL, Forni S, McNeill N, Goker-Alpan O, Wang X, Ashcraft P, Moore DF, Cheng SH, Schiffmann R, Bottiglieri T.

Hum Mol Genet. 2017 Mar 15;26(6):1182-1192. doi: 10.1093/hmg/ddx032.

PMID:
28158561
5.

Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation.

Auray-Blais C, Lavoie P, Boutin M, Ntwari A, Hsu TR, Huang CK, Niu DM.

Clin Chim Acta. 2017 Mar;466:185-193. doi: 10.1016/j.cca.2017.01.018. Epub 2017 Jan 18.

PMID:
28108302
6.

Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey.

Hsu TR, Chang FP, Chu TH, Sung SH, Bizjajeva S, Yu WC, Niu DM.

Int J Mol Sci. 2017 Jan 9;18(1). pii: E119. doi: 10.3390/ijms18010119.

7.

The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study.

Turkmen K, Guclu A, Sahin G, Kocyigit I, Demirtas L, Erdur FM, Sengül E, Ozkan O, Emre H, Turgut F, Unal H, Karaman M, Acıkel C, Esen H, Balli E, Bıtırgen G, Tonbul HZ, Yılmaz MI, Ortiz A.

Kidney Blood Press Res. 2016;41(6):1016-1024. doi: 10.1159/000452605. Epub 2016 Dec 23.

8.

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.

9.

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.

10.

A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells.

Shimohata H, Ogawa Y, Maruyama H, Hirayama K, Kobayashi M.

Intern Med. 2016;55(23):3475-3478. Epub 2016 Dec 1.

12.

Paediatric Fabry disease: prognostic significance of ocular changes for disease severity.

Kalkum G, Pitz S, Karabul N, Beck M, Pintos-Morell G, Parini R, Rohrbach M, Bizjajeva S, Ramaswami U.

BMC Ophthalmol. 2016 Nov 16;16(1):202.

13.

eNOS gene Glu298Asp and 4b/a polymorphisms are associated with renal function parameters in Mexican patients with Fabry disease.

Marin-Medina A, Brambila-Tapia AJ, Picos-Cárdenas VJ, Gallegos-Arreola MP, Figuera LE.

Genet Mol Res. 2016 Oct 24;15(4). doi: 10.4238/gmr15047802.

PMID:
27813552
14.

Improvement in Microvascular Ischemia After Enzyme Replacement Therapy in Anderson-Fabry Disease - Computed Tomography Myocardial Perfusion Imaging.

Yuki H, Utsunomiya D, Izumiya Y, Oda S, Kidoh M, Takashio S, Yamamuro M, Hokimoto S, Yamashita Y.

Circ J. 2017 Jan 25;81(2):243-244. doi: 10.1253/circj.CJ-16-0873. Epub 2016 Oct 25. No abstract available.

15.

Focal Reduction in Cardiac <sup>123</sup>I-Metaiodobenzylguanidine Uptake in Patients With Anderson-Fabry Disease.

Yamamoto S, Suzuki H, Sugimura K, Tatebe S, Aoki T, Miura M, Yaoita N, Sato H, Kozu K, Ota H, Takanami K, Takase K, Shimokawa H.

Circ J. 2016 Nov 25;80(12):2550-2551. Epub 2016 Oct 25.

16.

Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.

Chong Y, Kim M, Koh ES, Shin SJ, Kim HS, Chung S.

BMC Med Genet. 2016 Oct 24;17(1):76.

17.

Cardiac device implantation in Fabry disease: A retrospective monocentric study.

Sené T, Lidove O, Sebbah J, Darondel JM, Picard H, Aaron L, Fain O, Zenone T, Joly D, Charron P, Ziza JM.

Medicine (Baltimore). 2016 Oct;95(40):e4996.

18.

Rapid preparation of (3R,4S,5R) polyhydroxylated pyrrolidine-based libraries to discover a pharmacological chaperone for treatment of Fabry disease.

Cheng WC, Wang JH, Yun WY, Li HY, Hu JM.

Eur J Med Chem. 2017 Jan 27;126:1-6. doi: 10.1016/j.ejmech.2016.10.004. Epub 2016 Oct 5.

PMID:
27744182
19.

Physical Exercise in Patients with Fabry Disease - a Pilot Study.

Schmitz B, Thorwesten L, Lenders M, Duning T, Stypmann J, Brand E, Brand SM.

Int J Sports Med. 2016 Dec;37(13):1066-1072. Epub 2016 Sep 27.

PMID:
27676143
20.

Novel α-Galactosidase A Mutation (K391E) in a Young Woman With Severe Cardiac and Renal Manifestations of Fabry Disease.

Wakakuri H, Nakamura S, Utsumi K, Shimizu W, Yasutake M.

Int Heart J. 2016 Sep 28;57(5):637-9. doi: 10.1536/ihj.15-475. Epub 2016 Sep 5.

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