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Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening.

Bouwman MG, de Ru MH, Linthorst GE, Hollak CE, Wijburg FA, van Zwieten MC.

Mol Genet Metab. 2013 Jun;109(2):201-7. doi: 10.1016/j.ymgme.2013.03.008. Epub 2013 Mar 21.


Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening.

de Ru MH, Bouwman MG, Wijburg FA, van Zwieten MC.

Mol Genet Metab. 2012 Nov;107(3):501-7. doi: 10.1016/j.ymgme.2012.08.008. Epub 2012 Aug 16.


Fabry disease 'The New Great Imposter': results of the French Observatoire in Internal Medicine Departments (FIMeD).

Lidove O, Kaminsky P, Hachulla E, Leguy-Seguin V, Lavigne C, Marie I, Maillot F, Serratrice C, Masseau A, Chérin P, Cabane J, Noel E; FIMeD investigators.

Clin Genet. 2012 Jun;81(6):571-7. doi: 10.1111/j.1399-0004.2011.01718.x. Epub 2011 Jun 21.


[Comparison of patients from a Spanish Registry of Fabry disease in two periods].

Barba Romero MÁ, Rivera Gallego A, Pintos Morell G; Grupo Español de Estudio del FOS.

Med Clin (Barc). 2012 Oct 13;139(9):379-84. doi: 10.1016/j.medcli.2011.11.026. Epub 2012 Jan 21. Spanish.


Social-adaptive and psychological functioning of patients affected by Fabry disease.

Laney DA, Gruskin DJ, Fernhoff PM, Cubells JF, Ousley OY, Hipp H, Mehta AJ.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S73-81. doi: 10.1007/s10545-009-9025-6. Epub 2010 Jan 20.


Diagnosing lysosomal storage disorders: Fabry disease.

Bodamer OA, Johnson B, Dajnoki A.

Curr Protoc Hum Genet. 2013;Chapter 17:Unit17.13. doi: 10.1002/0471142905.hg1713s77.


Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A).

Liu HC, Lin HY, Yang CF, Liao HC, Hsu TR, Lo CW, Chang FP, Huang CK, Lu YH, Lin SP, Yu WC, Niu DM.

Orphanet J Rare Dis. 2014 Jul 22;9:111. doi: 10.1186/s13023-014-0111-y.


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.


High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.

Lin HY, Chong KW, Hsu JH, Yu HC, Shih CC, Huang CH, Lin SJ, Chen CH, Chiang CC, Ho HJ, Lee PC, Kao CH, Cheng KH, Hsueh C, Niu DM.

Circ Cardiovasc Genet. 2009 Oct;2(5):450-6. doi: 10.1161/CIRCGENETICS.109.862920. Epub 2009 Jul 24.


Computer assisted evaluation of retinal vessels tortuosity in Fabry disease.

Sodi A, Guarducci M, Vauthier L, Ioannidis AS, Pitz S, Abbruzzese G, Sofi F, Mecocci A, Miele A, Menchini U.

Acta Ophthalmol. 2013 Mar;91(2):e113-9. doi: 10.1111/j.1755-3768.2012.02576.x. Epub 2012 Nov 20.


Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease.

Zizzo C, Colomba P, Albeggiani G, Gallizzi R, Iemolo F, Nuzzo D, Vasto S, Caruso C, Duro G.

Clin Genet. 2013 Jun;83(6):576-81. doi: 10.1111/j.1399-0004.2012.01940.x. Epub 2012 Aug 20.


Demographic characterization of Brazilian patients enrolled in the Fabry Registry.

Martins AM, Kyosen SO, Garrote J, Marques FM, Guilhem JG, Macedo E, Sobral Neto J, Ura S.

Genet Mol Res. 2013 Jan 24;12(1):136-42. doi: 10.4238/2013.January.24.5.


Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ).

Ramaswami U, Stull DE, Parini R, Pintos-Morell G, Whybra C, Kalkum G, Rohrbach M, Raluy-Callado M, Beck M, Chen WH, Wiklund I; FOS Investigators.

Health Qual Life Outcomes. 2012 Sep 20;10:116. doi: 10.1186/1477-7525-10-116.


Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy.

Terryn W, Deschoenmakere G, De Keyser J, Meersseman W, Van Biesen W, Wuyts B, Hemelsoet D, Pascale H, De Backer J, De Paepe A, Poppe B, Vanholder R.

Int J Cardiol. 2013 Sep 10;167(6):2555-60. doi: 10.1016/j.ijcard.2012.06.069. Epub 2012 Jul 16.


Misdiagnosis in Fabry disease.

Marchesoni CL, Roa N, Pardal AM, Neumann P, Cáceres G, Martínez P, Kisinovsky I, Bianchi S, Tarabuso AL, Reisin RC.

J Pediatr. 2010 May;156(5):828-31. doi: 10.1016/j.jpeds.2010.02.012.


A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.

Merta M, Reiterova J, Ledvinova J, Poupetová H, Dobrovolny R, Rysavá R, Maixnerová D, Bultas J, Motán J, Slivkova J, Sobotova D, Smrzova J, Tesar V.

Nephrol Dial Transplant. 2007 Jan;22(1):179-86. Epub 2006 Oct 13.


Neurological complications of Anderson-Fabry disease.

Tuttolomondo A, Pecoraro R, Simonetta I, Miceli S, Arnao V, Licata G, Pinto A.

Curr Pharm Des. 2013;19(33):6014-30. Review.


Adult ADHD patient experiences of impairment, service provision and clinical management in England: a qualitative study.

Matheson L, Asherson P, Wong IC, Hodgkins P, Setyawan J, Sasane R, Clifford S.

BMC Health Serv Res. 2013 May 21;13:184. doi: 10.1186/1472-6963-13-184.


Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice.

Terryn W, Cochat P, Froissart R, Ortiz A, Pirson Y, Poppe B, Serra A, Van Biesen W, Vanholder R, Wanner C.

Nephrol Dial Transplant. 2013 Mar;28(3):505-17. doi: 10.1093/ndt/gfs526. Epub 2012 Dec 12.


Analysis of lyso-globotriaosylsphingosine in dried blood spots.

Johnson B, Mascher H, Mascher D, Legnini E, Hung CY, Dajnoki A, Chien YH, Maródi L, Hwu WL, Bodamer OA.

Ann Lab Med. 2013 Jul;33(4):274-8. doi: 10.3343/alm.2013.33.4.274. Epub 2013 Jun 24.

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