SCOPUS 정보 검색 플랫폼

European Journal of Medical Research

Volumn 11, Issue 7, 2006, Pages 306-308

Fabry disease in a female patient due to a de novo point mutation at position 691 of exon 5

(4) Brokalaki, E I a Hentschke, M b Grabbe, S a Jansen, Thomas a

a UNIVERSITY HOSPITAL ESSEN (Germany)

b UNIVERSITY OF HAMBURG (Germany)

Author keywords

galactosidase A; Fabry disease; Heterozygous

Indexed keywords

AGALSIDASE ALFA; ALPHA GALACTOSIDASE; ASPARAGINE; ASPARTIC ACID;

ABSENCE OF SIDE EFFECTS; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CORNEA OPACITY; DNA DETERMINATION; ECHOCARDIOGRAPHY; ENZYME REPLACEMENT; EXON; FABRY DISEASE; FEMALE; HEMANGIOKERATOMA; HUMAN; HUMAN TISSUE; MITRAL VALVE PROLAPSE; PHYSICAL EXAMINATION; POINT MUTATION;

ADULT; ALPHA-GALACTOSIDASE; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FABRY DISEASE; FEMALE; HUMANS; POINT MUTATION;

EID: 33747325490 PISSN: 09492321 EISSN: None Source Type: Journal
DOI: None Document Type: Article

Times cited : (8)

References (6)

1
- 0348149005
- Enzyme replacement therapy in heterozygous females with Fabry disease: Results of a phase IIIB study
- Baehner F, Kampmann C, Whybra C, Miebach E, Wiethoff CM, Beck MJ (2003) Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study. J Inherit Metab Dis 26: 617-627
- (2003) J Inherit Metab Dis , vol.26 , pp. 617-627
- Baehner, F.¹ Kampmann, C.² Whybra, C.³ Miebach, E.⁴ Wiethoff, C.M.⁵ Beck, M.J.⁶

2
- 33645781485
- Natural history of Fabry disease in females in the Fabry Outcome Survey
- Deegan P, Baehner AF, Barba-Romero MA, Hughes D, Kampmann C, Beck M (2006) Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 43: 347-352
- (2006) J Med Genet , vol.43 , pp. 347-352
- Deegan, P.¹ Baehner, A.F.² Barba-Romero, M.A.³ Hughes, D.⁴ Kampmann, C.⁵ Beck, M.⁶

3
- 0037452544
- Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
- Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR (2003) Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138: 338-346
- (2003) Ann Intern Med , vol.138 , pp. 338-346
- Desnick, R.J.¹ Brady, R.² Barranger, J.³ Collins, A.J.⁴ Germain, D.P.⁵ Goldman, M.⁶ Grabowski, G.⁷ Packman, S.⁸ Wilcox, W.R.⁹

4
- 20144370430
- Recurrence of Fabry disease as a result of paternal germline mosaicism for α-galactosidase A gene mutation
- Dobrovolny R, Dvorakova L, Ledvinova J, Magage S, Bultas J, Lubanda JC, Poupetova H, Elleder M, Karetova D, Hrebicek M (2005) Recurrence of Fabry disease as a result of paternal germline mosaicism for α-galactosidase A gene mutation. Am J Med Genet A 134: 84-87
- (2005) Am J Med Genet A , vol.134 , pp. 84-87
- Dobrovolny, R.¹ Dvorakova, L.² Ledvinova, J.³ Magage, S.⁴ Bultas, J.⁵ Lubanda, J.C.⁶ Poupetova, H.⁷ Elleder, M.⁸ Karetova, D.⁹ Hrebicek, M.¹⁰

5
- 0037032275
- 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 (2002) Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol 40: 1668-1674
- (2002) J Am Coll Cardiol , vol.40 , pp. 1668-1674
- Kampmann, C.¹ Baehner, F.² Whybra, C.³ Martin, C.⁴ Wiethoff, C.M.⁵ Ries, M.⁶ Gal, A.⁷ Beck, M.⁸

6
- 19244364584
- Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the α-galactosidase A gene
- Redonnet-Vernhet I, Ploos van Amstel JK, Jansen RP, Wevers RA, Salvayre R, Levade T (1996) Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the α-galactosidase A gene. J Med Genet 33: 682-688
- (1996) J Med Genet , vol.33 , pp. 682-688
- Redonnet-Vernhet, I.¹ Ploos van Amstel, J.K.² Jansen, R.P.³ Wevers, R.A.⁴ Salvayre, R.⁵ Levade, T.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.