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Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process

Introduction: Recent studies have indicated that a proportion of patients with renal failure, left ventricular hypertrophy, or cryptogenic stroke have sequence variants in their aGal A gene (Fabry disease), which has resulted in an increase in diagnostic activities for this disorder. The diagnostic...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Langereis, E. J., van den Berg, I. E. T., Halley, D. J. J., Poorthuis, B. J. H. M., Vaz, F. M., Wokke, J. H. J., Linthorst, G. E.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Springer Berlin Heidelberg 2012
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3565649/
https://ncbi.nlm.nih.gov/pubmed/23430557
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_189
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