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Late onset Pompe Disease in India - Beyond the Caucasian phenotype.
Puri RD, Setia N, N V, Jagadeesh S, Nampoothiri S, Gupta N, Muranjan M, Bhat M, Girisha KM, Kabra M, Verma J, Thomas DC, Biji I, Raja J, Makkar R, Verma IC, Kishnani PS. Puri RD, et al. Neuromuscul Disord. 2021 May;31(5):431-441. doi: 10.1016/j.nmd.2021.02.013. Epub 2021 Feb 16. Neuromuscul Disord. 2021. PMID: 33741225
Dysmorphology diagnosis.
Puri RD, Verma IC. Puri RD, et al. Indian J Pediatr. 2004 Jun;71(6):535-9. doi: 10.1007/BF02724297. Indian J Pediatr. 2004. PMID: 15226565
Molecular studies of achondroplasia.
Nahar R, Saxena R, Kohli S, Puri R, Verma IC. Nahar R, et al. Indian J Orthop. 2009 Apr;43(2):194-6. doi: 10.4103/0019-5413.50856. Indian J Orthop. 2009. PMID: 19838370 Free PMC article.
Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNA.
Bashyam MD, Chaudhary AK, Reddy EC, Devi AR, Savithri GR, Ratheesh R, Bashyam L, Mahesh E, Sen D, Puri R, Verma IC, Nampoothiri S, Vaidyanathan S, Chandrashekar MD, Kantheti P. Bashyam MD, et al. Mol Genet Metab. 2010 May;100(1):96-9. doi: 10.1016/j.ymgme.2010.01.016. Epub 2010 Feb 2. Mol Genet Metab. 2010. PMID: 20188615
117 results