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Results: 1 to 20 of 100

1.

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females.

MacDermot KD, Holmes A, Miners AH.

J Med Genet. 2001 Nov;38(11):769-75. No abstract available.

PMID:
11732485
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Natural history of Fabry disease in affected males and obligate carrier females.

MacDermot KD, Holmes A, Miners AH.

J Inherit Metab Dis. 2001;24 Suppl 2:13-4; discussion 11-2. No abstract available.

PMID:
11758673
[PubMed - indexed for MEDLINE]
3.

The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.

Vedder AC, Linthorst GE, van Breemen MJ, Groener JE, Bemelman FJ, Strijland A, Mannens MM, Aerts JM, Hollak CE.

J Inherit Metab Dis. 2007 Feb;30(1):68-78. Epub 2007 Jan 5.

PMID:
17206462
[PubMed - indexed for MEDLINE]
4.

The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women.

Gupta S, Ries M, Kotsopoulos S, Schiffmann R.

Medicine (Baltimore). 2005 Sep;84(5):261-8.

PMID:
16148726
[PubMed - indexed for MEDLINE]
5.

Clinical and genetic analysis of Fabry disease: report of six cases including three heterozygous females.

Nagasaki A, Nishie W, Sato K, Oba I, Noguchi E, Akitsu H, Sawamura D, Shimizu H.

J Dermatol Sci. 2008 Oct;52(1):61-4. doi: 10.1016/j.jdermsci.2008.04.009. Epub 2008 Jun 13. No abstract available.

PMID:
18555667
[PubMed - indexed for MEDLINE]
6.

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

Maier EM, Osterrieder S, Whybra C, Ries M, Gal A, Beck M, Roscher AA, Muntau AC.

Acta Paediatr Suppl. 2006 Apr;95(451):30-8.

PMID:
16720462
[PubMed - indexed for MEDLINE]
7.

Renal involvement in an Anderson-Fabry heterozygote.

Kingdon EJ, Holt SG, Burns A.

Postgrad Med J. 2002 Dec;78(926):759. No abstract available.

PMID:
12509698
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

[Molecular pathology and clinical manifestations of Fabry disease].

Rákóczi E, Görögh S, Grubits J, Erdos M, Garzuly F, Hahn K, Bencsik K, Vécsei L, Trinn C, Kristóf E, Mogyorósy G, Tóth B, Maródi L.

Orv Hetil. 2007 Jun 10;148(23):1087-94. Hungarian.

PMID:
17545117
[PubMed - indexed for MEDLINE]
9.

[Anderson-Fabry disease. Current status. Apropos of a case].

Vidal J, Pedragosa R, Serrano S, Valles M.

Med Cutan Ibero Lat Am. 1987;15(2):123-34. Spanish.

PMID:
2821332
[PubMed - indexed for MEDLINE]
10.

Fabry disease and the skin: data from FOS, the Fabry outcome survey.

Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G, Ramaswami U, Parini R, Sunder-Plassman G, Beck M, Mehta AB; FOS Investigators.

Br J Dermatol. 2007 Aug;157(2):331-7. Epub 2007 Jun 15.

PMID:
17573884
[PubMed - indexed for MEDLINE]
11.

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males.

MacDermot KD, Holmes A, Miners AH.

J Med Genet. 2001 Nov;38(11):750-60.

PMID:
11694547
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP; Fabry Registry.

Mol Genet Metab. 2008 Feb;93(2):112-28. Epub 2007 Nov 26.

PMID:
18037317
[PubMed - indexed for MEDLINE]
13.

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.

Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ, Elliott PM.

Circulation. 2002 Mar 26;105(12):1407-11.

PMID:
11914245
[PubMed - indexed for MEDLINE]
Free Article
14.

Isolated cardiac manifestations in Fabry disease: the UK experience.

Sachdev B, Elliott PM.

Acta Paediatr Suppl. 2002;91(439):28-30.

PMID:
12572839
[PubMed - indexed for MEDLINE]
15.

Cardiac manifestations of Anderson-Fabry disease in heterozygous females.

Kampmann C, Baehner F, Whybra C, Martin C, Wiethoff CM, Ries M, Gal A, Beck M.

J Am Coll Cardiol. 2002 Nov 6;40(9):1668-74.

PMID:
12427421
[PubMed - indexed for MEDLINE]
Free Article
16.

Immunofluorescence analysis of trihexosylceramide accumulated in the hearts of variant hemizygotes and heterozygotes with Fabry disease.

Itoh K, Takenaka T, Nakao S, Setoguchi M, Tanaka H, Suzuki T, Sakuraba H.

Am J Cardiol. 1996 Jul 1;78(1):116-7.

PMID:
8712102
[PubMed - indexed for MEDLINE]
17.

Depression in adults with Fabry disease: a common and under-diagnosed problem.

Cole AL, Lee PJ, Hughes DA, Deegan PB, Waldek S, Lachmann RH.

J Inherit Metab Dis. 2007 Nov;30(6):943-51. Epub 2007 Nov 12.

PMID:
17994284
[PubMed - indexed for MEDLINE]
18.

Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.

Glass RB, Astrin KH, Norton KI, Parsons R, Eng CM, Banikazemi M, Desnick RJ.

J Comput Assist Tomogr. 2004 Mar-Apr;28(2):158-68.

PMID:
15091117
[PubMed - indexed for MEDLINE]
19.

Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria.

Kleinert J, Kotanko P, Spada M, Pagliardini S, Paschke E, Paul K, Voigtländer T, Wallner M, Kramar R, Stummvoll HK, Schwarz C, Horn S, Holzer H, Födinger M, Sunder-Plassmann G.

Transpl Int. 2009 Mar;22(3):287-92. doi: 10.1111/j.1432-2277.2008.00791.x. Epub 2008 Oct 24.

PMID:
18954370
[PubMed - indexed for MEDLINE]
20.

Anderson-Fabry disease with cerebrovascular complications in two Italian families.

Borsini W, Giuliacci G, Torricelli F, Pelo E, Martinelli F, Scordo MR.

Neurol Sci. 2002 Jun;23(2):49-53.

PMID:
12235491
[PubMed - indexed for MEDLINE]

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