The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
Anderson–Fabry disease: Clinical manifestations of disease in female heterozygotes
Abstract
Anderson–Fabry disease is a rare, X‐chromosomal lipid storage disorder caused by a deficiency of lysosomal α‐galactosidase A. Clinical manifestations of Anderson–Fabry disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson–Fabry disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular disease, and gastrointestinal and heart problems. It therefore appears that Anderson–Fabry disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X‐linked dominant disease.
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Cites
An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy
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Cited by
Zipes, D. P., Camm, A. J., Borggrefe, M., Buxton, A. E., Chaitman, B., Fromer, M., Gregoratos, G., Klein, G., Moss, A. J., Myerburg, R. J., et al. (2006) · Circulation · doi:10.1161/circulationaha.106.178233 · Cited by 1,080
Natural history of Fabry disease in females in the Fabry Outcome Survey
Deegan, P. B., Baehner, A. F., Barba Romero, M.-Á., Hughes, D. A., Kampmann, C., & Beck, M. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2005.036327 · Cited by 304
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Metadata
- Authors
- Whybra, C., Kampmann, C., Willers, I., Davies, J., Winchester, B., Kriegsmann, J., Brühl, K., Gal, A., Bunge, S., & Beck, M.
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 2001-11
- Volume
- 24
- Issue
- 7
- Pages
- 715-724
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W1534234912
- Cited by
- 276
- References
- 10
- FWCI
- 8.29
- Type
- journal article
- Language
- en
- Open access
- closed
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- Whybra, C., Kampmann, C., Willers, I., Davies, J., Winchester, B., Kriegsmann, J., Brühl, K., Gal, A., Bunge, S., & Beck, M. (2001). Anderson–Fabry disease: Clinical manifestations of disease in female heterozygotes. Journal of Inherited Metabolic Disease. https://doi.org/10.1023/a%3A1012993305223
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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