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An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.
Kazi ZB, Desai AK, Troxler RB, Kronn D, Packman S, Sabbadini M, Rizzo WB, Scherer K, Abdul-Rahman O, Tanpaiboon P, Nampoothiri S, Gupta N, Feigenbaum A, Niyazov DM, Sherry L, Segel R, McVie-Wylie A, Sung C, Joseph AM, Richards S, Kishnani PS. Kazi ZB, et al. Among authors: gupta n. Genet Med. 2019 Apr;21(4):887-895. doi: 10.1038/s41436-018-0270-7. Epub 2018 Sep 14. Genet Med. 2019. PMID: 30214072 Free PMC article.
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.
Ben Turkia H, Gonzalez DE, Barton NW, Zimran A, Kabra M, Lukina EA, Giraldo P, Kisinovsky I, Bavdekar A, Ben Dridi MF, Gupta N, Kishnani PS, Sureshkumar EK, Wang N, Crombez E, Bhirangi K, Mehta A. Ben Turkia H, et al. Among authors: gupta n. Am J Hematol. 2013 Mar;88(3):179-84. doi: 10.1002/ajh.23382. Epub 2013 Feb 9. Am J Hematol. 2013. PMID: 23400823 Free article. Clinical Trial.
Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics.
Puri RD, Kapoor S, Kishnani PS, Dalal A, Gupta N, Muranjan M, Phadke SR, Sachdeva A, Verma IC, Mistry PK; Gaucher Disease Task Force. Puri RD, et al. Among authors: gupta n. Indian Pediatr. 2018 Feb 15;55(2):143-153. Indian Pediatr. 2018. PMID: 29503270 Free article.
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.
Somashekar PH, Girisha KM, Nampoothiri S, Gowrishankar K, Devi RR, Gupta N, Narayanan DL, Kaur A, Bajaj S, Jagadeesh S, Lewis LES, Shailaja S, Shukla A. Somashekar PH, et al. Among authors: gupta n. Clin Genet. 2019 Mar;95(3):398-402. doi: 10.1111/cge.13468. Epub 2018 Nov 27. Clin Genet. 2019. PMID: 30394532
Thenar Hypertrophy and Electrical Myotonia in Pompe Disease.
Jauhari P, Saini AG, Suthar R, Sankhyan N, Rehder C, Kishnani P, Gupta N, Kabra M, Singhi P. Jauhari P, et al. Among authors: gupta n. J Clin Neuromuscul Dis. 2019 Mar;20(3):135-137. doi: 10.1097/CND.0000000000000195. J Clin Neuromuscul Dis. 2019. PMID: 30801484 No abstract available.
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India.
Mistri M, Mehta S, Solanki D, Kamate M, Gupta N, Kabra M, Puri R, Girisha K, Hariharan S, Nampoothiri S, Sheth F, Sheth J. Mistri M, et al. Among authors: gupta n. J Hum Genet. 2019 Oct;64(10):985-994. doi: 10.1038/s10038-019-0647-8. Epub 2019 Aug 6. J Hum Genet. 2019. PMID: 31388111
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. Among authors: gupta n, n v. 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
Monosomy 1p36: Report of a cohort of 13 Asian Indian patients.
Gupta N, Kaur R, Phadke S, Sharma P, Nampoothiri S, Saxena D, Kabra M. Gupta N, et al. Am J Med Genet A. 2022 Apr;188(4):1317-1322. doi: 10.1002/ajmg.a.62630. Epub 2022 Jan 6. Am J Med Genet A. 2022. PMID: 34989134
8,186 results