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Items: 1 to 20 of 33

1.

Enzyme replacement therapy and white matter hyperintensity progression in Fabry disease.

Stefaniak JD, Parkes LM, Parry-Jones AR, Potter GM, Vail A, Jovanovic A, Smith CJ.

Neurology. 2018 Oct 9;91(15):e1413-e1422. doi: 10.1212/WNL.0000000000006316. Epub 2018 Sep 12.

2.

Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.

Mauhin W, Lidove O, Amelin D, Lamari F, Caillaud C, Mingozzi F, Dzangué-Tchoupou G, Arouche-Delaperche L, Douillard C, Dussol B, Leguy-Seguin V, D'Halluin P, Noel E, Zenone T, Matignon M, Maillot F, Ly KH, Besson G, Willems M, Labombarda F, Masseau A, Lavigne C, Froissart R, Lacombe D, Ziza JM, Hachulla E, Benveniste O.

Orphanet J Rare Dis. 2018 Jul 31;13(1):127. doi: 10.1186/s13023-018-0877-4.

3.

Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy.

Franzen D, Haile SR, Kasper DC, Mechtler TP, Flammer AJ, Krayenbühl PA, Nowak A.

BMJ Open Respir Res. 2018 Apr 21;5(1):e000277. doi: 10.1136/bmjresp-2018-000277. eCollection 2018.

4.

Fabry disease in the Spanish population: observational study with detection of 77 patients.

Vieitez I, Souto-Rodriguez O, Fernandez-Mosquera L, San Millan B, Teijeira S, Fernandez-Martin J, Martinez-Sanchez F, Aldamiz-Echevarria LJ, Lopez-Rodriguez M, Navarro C, Ortolano S.

Orphanet J Rare Dis. 2018 Apr 10;13(1):52. doi: 10.1186/s13023-018-0792-8.

5.

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

Choi JH, Lee BH, Heo SH, Kim GH, Kim YM, Kim DS, Ko JM, Sohn YB, Hong YH, Lee DH, Kook H, Lim HH, Kim KH, Kim WS, Hong GR, Kim SH, Park SH, Kim CD, Kim SM, Seo JS, Yoo HW.

Medicine (Baltimore). 2017 Jul;96(29):e7387. doi: 10.1097/MD.0000000000007387.

6.

Fabry's Disease: Case Series and Review of Literature.

Wani MM, Khan I, Bhat RA, Ahmad M.

Ann Med Health Sci Res. 2016 May-Jun;6(3):193-7. doi: 10.4103/2141-9248.183935.

7.

The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.

Verrecchia E, Zampetti A, Antuzzi D, Ricci R, Ferri L, Morrone A, Feliciani C, Dagna L, Manna R.

Eur J Intern Med. 2016 Jul;32:26-30. doi: 10.1016/j.ejim.2016.03.015. Epub 2016 Apr 12.

PMID:
27083555
8.

Screening for Fabry's disease in young patients with ischemic stroke in a Chinese population.

Song X, Xue S, Zhao J, Wu J.

Int J Neurosci. 2017 Apr;127(4):350-355. doi: 10.3109/00207454.2016.1166107. Epub 2016 Apr 4.

PMID:
26981927
9.

Extensive angiokeratoma circumscriptum - successful treatment with 595-nm variable-pulse pulsed dye laser and 755-nm long-pulse pulsed alexandrite laser.

Baumgartner J, Šimaljaková M, Babál P.

J Cosmet Laser Ther. 2016 Jun;18(3):134-7. doi: 10.3109/14764172.2015.1114643. Epub 2016 Mar 8.

PMID:
26736060
10.

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

Lukas J, Scalia S, Eichler S, Pockrandt AM, Dehn N, Cozma C, Giese AK, Rolfs A.

Hum Mutat. 2016 Jan;37(1):43-51. doi: 10.1002/humu.22910. Epub 2015 Oct 27.

PMID:
26415523
11.

Control of proteinuria with increased doses of agalsidase alfa in a patient with Fabry disease with atypical genotype-phenotype expression.

Paliouras C, Aperis G, Lamprianou F, Ntetskas G, Roufas K, Alivanis P.

Nefrologia. 2015 Nov-Dec;35(6):578-81. doi: 10.1016/j.nefro.2015.08.001. Epub 2015 Sep 15.

12.

Genetics of cerebral small vessel disease.

Choi JC.

J Stroke. 2015 Jan;17(1):7-16. doi: 10.5853/jos.2015.17.1.7. Epub 2015 Jan 30. Review.

13.

Angiokeratoma of the nasal vestibule: a case report.

Öztürk M, Erdoğan S, Kara A, Sarı F.

Kulak Burun Bogaz Ihtis Derg. 2014 Nov-Dec;24(6):361-3. doi: 10.5606/kbbihtisas.2014.75983.

14.

A rare association between Fabry's disease and granulomatosis with polyangiitis: a potential pathogenic link.

Hanaoka H, Hashiguchi A, Konishi K, Ishii T, Kuwana M.

BMC Nephrol. 2014 Oct 1;15:157. doi: 10.1186/1471-2369-15-157.

15.

Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction.

Martins E, Pinho T, Carpenter S, Leite S, Garcia R, Madureira A, Oliveira JP.

Rev Port Cardiol. 2014 Sep;33(9):565.e1-6. doi: 10.1016/j.repc.2014.02.021. Epub 2014 Sep 20.

PMID:
25246064
16.
17.

Autophagy-lysosome pathway associated neuropathology and axonal degeneration in the brains of alpha-galactosidase A-deficient mice.

Nelson MP, Tse TE, O'Quinn DB, Percival SM, Jaimes EA, Warnock DG, Shacka JJ.

Acta Neuropathol Commun. 2014 Feb 14;2:20. doi: 10.1186/2051-5960-2-20.

18.

Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?

Böttcher T, Rolfs A, Tanislav C, Bitsch A, Köhler W, Gaedeke J, Giese AK, Kolodny EH, Duning T.

PLoS One. 2013 Aug 28;8(8):e71894. doi: 10.1371/journal.pone.0071894. eCollection 2013.

19.

A single lung transplant in a patient with fabry disease: causality or far-fetched? A case report.

Gaggl M, Kain R, Jaksch P, Haider D, Mundigler G, Voigtländer T, Sunder-Plassmann R, Rommer P, Klepetko W, Sunder-Plassmann G.

Case Rep Transplant. 2013;2013:905743. doi: 10.1155/2013/905743. Epub 2013 Apr 7.

20.

[Genetics of ischemic stroke].

Gschwendtner A, Dichgans M.

Nervenarzt. 2013 Feb;84(2):166-72. doi: 10.1007/s00115-012-3641-3. Review. German.

PMID:
23334453

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