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NBME CBSE 402 Revision Questions With Verified Answers
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Lesch-Nyhan Syndrome: what causes it and what are manifestations? - ️️HGPRT deficiency in purine salvage pathway (this enzyme normally converts hypoxanthine to IMP and guanine to GMP). This deficiency leads to excessive Uric acid production and de novo purine synthesis. It is X linked recessive...
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