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Items: 1 to 20 of 25

1.

Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.

Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Herrero AO, Fons C, Jou C, Sierra C, Castejon Ponce E, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Olivas SM, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á.

Orphanet J Rare Dis. 2015 Dec 30;10:164. doi: 10.1186/s13023-015-0376-9.

2.

Fabry disease, respiratory symptoms, and airway limitation - a systematic review.

Svensson CK, Feldt-Rasmussen U, Backer V.

Eur Clin Respir J. 2015 Jun 26;2. doi: 10.3402/ecrj.v2.26721. eCollection 2015. Review.

3.

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.

4.

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.

5.

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.

6.

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.

7.

A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy.

Holmes A, Laney D.

JIMD Rep. 2015;21:57-63. doi: 10.1007/8904_2014_384. Epub 2015 Feb 22.

8.

Kidney function as an underestimated factor for reduced health related quality of life in patients with Fabry disease.

Wagner M, Krämer J, Blohm E, Vergho D, Weidemann F, Breunig F, Wanner C.

BMC Nephrol. 2014 Nov 29;15:188. doi: 10.1186/1471-2369-15-188.

9.
11.

Automatic lane segmentation in TLC images using the continuous wavelet transform.

Moreira B, Sousa A, Mendonça AM, Campilho A.

Comput Math Methods Med. 2013;2013:218415. doi: 10.1155/2013/218415. Epub 2013 Sep 19.

12.

Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications.

Weidemann F, Niemann M, Störk S, Breunig F, Beer M, Sommer C, Herrmann S, Ertl G, Wanner C.

J Intern Med. 2013 Oct;274(4):331-41. doi: 10.1111/joim.12077. Epub 2013 May 6.

13.

Drug treatment of inborn errors of metabolism: a systematic review.

Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M.

Arch Dis Child. 2013 Jun;98(6):454-61. doi: 10.1136/archdischild-2012-303131. Epub 2013 Mar 26. Review.

14.

Foot process effacement with normal urinalysis in classic fabry disease.

Kanai T, Yamagata T, Ito T, Odaka J, Saito T, Aoyagi J, Kobayashi M, Ohashi T, Ueda Y, Momoi MY.

JIMD Rep. 2011;1:39-42. doi: 10.1007/8904_2011_14. Epub 2011 Jun 22.

15.

Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT.

Terryn W, Vanholder R, Hemelsoet D, Leroy BP, Van Biesen W, De Schoenmakere G, Wuyts B, Claes K, De Backer J, De Paepe G, Fogo A, Praet M, Poppe B.

JIMD Rep. 2013;8:101-8. doi: 10.1007/8904_2012_167. Epub 2012 Jul 29.

16.

Agalsidase benefits renal histology in young patients with Fabry disease.

Tøndel C, Bostad L, Larsen KK, Hirth A, Vikse BE, Houge G, Svarstad E.

J Am Soc Nephrol. 2013 Jan;24(1):137-48. doi: 10.1681/ASN.2012030316.

17.

Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel.

Burlina AP, Sims KB, Politei JM, Bennett GJ, Baron R, Sommer C, Møller AT, Hilz MJ.

BMC Neurol. 2011 May 27;11:61. doi: 10.1186/1471-2377-11-61. Review.

18.

Update on role of agalsidase alfa in management of Fabry disease.

Ramaswami U.

Drug Des Devel Ther. 2011 Mar 14;5:155-73. doi: 10.2147/DDDT.S11985. Review.

19.

Fabry disease - current treatment and new drug development.

Motabar O, Sidransky E, Goldin E, Zheng W.

Curr Chem Genomics. 2010 Jul 23;4:50-6. doi: 10.2174/1875397301004010050.

20.

Fabry disease.

Germain DP.

Orphanet J Rare Dis. 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30. Review.

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