A case of latent heterozygous Fabry disease in a female living kidney donor candidate-Reference-Cited by-同舟云学术

A case of latent heterozygous Fabry disease in a female living kidney donor candidate

Published:2020-07-25 Issue:1 Volume:10 Page:30-34
ISSN:2192-4449
Container-title:CEN Case Reports
language:en
Short-container-title:CEN Case Rep

Author:

Minami Masato^ORCID,Mizuma Emiko,Nakahara Mai,Oda Yumi,Yoshimine Haruhito,Tokunaga Koki,Mitsuke Akihiko,Yamada Yasutoshi,Enokida Hideki,Masutani Kosuke,Goto Norihiko,Ido Akio

Publisher

Springer Science and Business Media LLC

Subject

General Earth and Planetary Sciences,General Environmental Science

Link

https://link.springer.com/content/pdf/10.1007/s13730-020-00510-9.pdf

Reference27 articles.

1. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry’s disease. N Engl J Med. 1967;27:1163–7.

2. Kint JA. Fabry’s disease: alpha-galactosidase deficiency. Science. 1970;167:1268–9.

3. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30. https://doi.org/10.1186/1750-1172-5-30.

4. MacDermot KD, Holmes A, Miners AH, Rowland HS. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet. 2001;38(11):750–60.

5. MacDermot KD, Holmes A, Miners AH, Rowland HS. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001;38(11):769–75.

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