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Article
Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort
The current study aimed to explore phenotypic evolution in Fabry disease according to demographics, genotype, specific enzyme activity and pathogenicity scores. We integrated clinical, biochemical, and genomic...
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Article
Adaptive Neuro-Fuzzy Inference System-Based Exploration of the Interrelationships of 25-Hydroxyvitamin D, Calcium, Phosphorus with Parathyroid Hormone Production
The rationale of the current study was to assess the prevalence of 25-hydroxyvitamin D (25-OHD) deficiency and hyperparathyroidism in South Indian population and to explore interrelationships of 25-OHD, Ca, P ...
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Article
Poly A RNA status and expression of milli (m) and micro (μ) calpains in skeletal muscle of duchenne muscular dystrophy patients
Poly A RNA status and itsin vitro translation in a rabbit reticulolysate cell free system, were assessed in the skeletal muscle of young boys with Duchenne muscular dystrophy. Compared to normals there is a signi...
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Article
Analysis of Bcl I and Xba I polymorphism in factor VIII gene to detect carriers of haemophilia a in Andhra Pradesh
The efficacy of two intragenic polymorphic markers of factor VIII gene has been examined in Andhra Pradesh population with a view to confirm/revise the strategy for carrier detection that would be precise and ...
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Article
Quantitation of endogenous inhibitor of milli-CANP in Duchenne muscular dystrophy platelets and lymphocytes: Its implication in regulation
With a view to gain an insight into the regulation of calcium activated neutral protease by its endogenous inhibitor, the inhibitor was quantitated in platelets and lymphocytes of Duchenne muscular dystrophy p...