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Items: 1 to 20 of 89

1.

Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases.

Yu C, Sun Q, Zhou H.

N Am J Med Sci (Boston). 2013;6(4):186-193.

2.

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata.

Georgiou T, Mavrikiou G, Alexandrou A, Spanou-Aristidou E, Savva I, Christodoulides T, Krasia M, Christophidou-Anastasiadou V, Sismani C, Drousiotou A, Tanteles GA.

Case Rep Genet. 2016;2016:5208312. doi: 10.1155/2016/5208312. Epub 2016 Mar 30.

3.

Identification of a novel GLA mutation (F69 L) in a Japanese patient with late-onset Fabry disease.

Umeda T, Hashimoto S, Noriyasu K, Takamura A, Fujisaki M, Eto Y.

Hum Genome Var. 2015 Nov 12;2:15044. doi: 10.1038/hgv.2015.44. eCollection 2015.

4.

Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.

Oder D, Üçeyler N, Liu D, Hu K, Petritsch B, Sommer C, Ertl G, Wanner C, Nordbeck P.

BMJ Open. 2016 Apr 8;6(4):e010422. doi: 10.1136/bmjopen-2015-010422.

5.

Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.

Serebrinsky G, Calvo M, Fernandez S, Saito S, Ohno K, Wallace E, Warnock D, Sakuraba H, Politei J.

Mol Genet Metab Rep. 2015 Jun 7;4:19-24. doi: 10.1016/j.ymgmr.2015.05.006. eCollection 2015 Sep.

6.

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.

7.

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.

8.

Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.

Gervas-Arruga J, Cebolla JJ, Irun P, Perez-Lopez J, Plaza L, Roche JC, Capablo JL, Rodriguez-Rey JC, Pocovi M, Giraldo P.

BMC Genet. 2015 Sep 3;16:109. doi: 10.1186/s12863-015-0267-z.

9.

Clinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues; a pitfall in diagnosis of Fabry disease.

Sakuraba H, Tsukimura T, Tanaka T, Togawa T, Takahashi N, Mikami D, Wakai S, Akai Y.

J Nephropathol. 2015 Jul;4(3):91-6. doi: 10.12860/jnp.2015.17. Epub 2015 Jul 1.

10.

Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke.

Kilarski LL, Rutten-Jacobs LC, Bevan S, Baker R, Hassan A, Hughes DA, Markus HS; UK Young Lacunar Stroke DNA Study.

PLoS One. 2015 Aug 25;10(8):e0136352. doi: 10.1371/journal.pone.0136352. eCollection 2015.

11.

Recent advances in gene therapy for lysosomal storage disorders.

Rastall DP, Amalfitano A.

Appl Clin Genet. 2015 Jun 24;8:157-69. doi: 10.2147/TACG.S57682. eCollection 2015. Review.

12.

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.

13.

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.

14.

Prevalence of Raynaud phenomenon and nailfold capillaroscopic abnormalities in Fabry disease: a cross-sectional study.

Deshayes S, Auboire L, Jaussaud R, Lidove O, Parienti JJ, Triclin N, Imbert B, Bienvenu B, Aouba A.

Medicine (Baltimore). 2015 May;94(20):e780. doi: 10.1097/MD.0000000000000780.

15.

High variability of Fabry disease manifestations in an extended Italian family.

Cammarata G, Fatuzzo P, Rodolico MS, Colomba P, Sicurella L, Iemolo F, Zizzo C, Alessandro R, Bartolotta C, Duro G, Monte I.

Biomed Res Int. 2015;2015:504784. doi: 10.1155/2015/504784. Epub 2015 Apr 22.

16.

Pathogenesis of glomerular haematuria.

Yuste C, Gutierrez E, Sevillano AM, Rubio-Navarro A, Amaro-Villalobos JM, Ortiz A, Egido J, Praga M, Moreno JA.

World J Nephrol. 2015 May 6;4(2):185-95. doi: 10.5527/wjn.v4.i2.185. Review.

17.

Taming molecular flexibility to tackle rare diseases.

Cubellis MV, Baaden M, Andreotti G.

Biochimie. 2015 Jun;113:54-8. doi: 10.1016/j.biochi.2015.03.018. Epub 2015 Apr 2.

18.

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.

19.

Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis.

Weisfeld-Adams JD, Katz Sand IB, Honce JM, Lublin FD.

Brain. 2015 Mar;138(Pt 3):517-39. doi: 10.1093/brain/awu397. Epub 2015 Jan 29. Review.

20.

Hypertension in adult Fabry's disease: is cardiotrophin-1 a diagnostic biomarker?

Marazzi MG, Galliera E, Vianello E, Dozio E, Stella A, Tettamanti G, Tacchini L, Corsi Romanelli MM.

Immun Ageing. 2014 Dec 20;11(1):27. doi: 10.1186/s12979-014-0027-3. eCollection 2014.

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