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Presymptomatic diagnosis of Fabry’s disease: a case report
BACKGROUND: Fabry’s disease is a rare X-linked genetic disorder characterized by reduced levels of the α-galactosidase A enzyme. It may present with a cardiac phenotype resembling hypertrophic cardiomyopathy. However, as a specific enzyme replacement therapy is available, it remains an important dif...
में बचाया:
| में प्रकाशित: | J Med Case Rep |
|---|---|
| मुख्य लेखकों: | , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BioMed Central
2016
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5129214/ https://ncbi.nlm.nih.gov/pubmed/27899143 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-016-1124-z |
| टैग : |
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