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Late Onset Pompe's Disease: Clinical, Pathological & amp;amp; Molecular Analysis of Two Adolescent Patients
CONCLUSION: Genetic diseases manifest as rare phenotype which in itself is a clinical puzzle. When rare disease present with a rare manifestation of itself, this pose a great diagnostic challenge. Pompe's disease is one of the very few inherited disorder which has definitive treatment- enzyme replacement therapy. Molecular characterization of the variant is absolutely necessary before initiating therapy. References Ausems MG, Verbiest J, Hermans MM, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999;7(6):713-716. Van der Beek NA,...
Source: Journal of the Association of Physicians of India - April 28, 2023 Category: General Medicine Authors: Arun Sree Parameswaran None Singh Lokesh Saini Divya Aggarwal Source Type: research
