Verma J - Search Results

1

Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease.

Thomas DC, Sharma S, Puri RD, Verma IC, Verma J. Thomas DC, et al. Among authors: verma j, verma ic. Clin Biochem. 2021 Mar;89:14-37. doi: 10.1016/j.clinbiochem.2020.12.002. Epub 2020 Dec 8. Clin Biochem. 2021. PMID: 33301762

2

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders.

Verma J, Thomas DC, Sharma S, Jhingan G, Saxena R, Kohli S, Puri RD, Bijarnia S, Verma IC. Verma J, et al. Among authors: verma ic. Prenat Diagn. 2015 Nov;35(11):1137-47. doi: 10.1002/pd.4663. Epub 2015 Sep 3. Prenat Diagn. 2015. PMID: 26223439

3

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: verma j, verma ic. 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

4

Levels of Lyso GL-1 in Gaucher and Lyso GL-3 in Fabry patients from India: Diagnostic aids for these lysosomal storage disorders.

Verma J, Roy P, Thomas DC, Dua Puri R, Verma IC. Verma J, et al. Among authors: verma ic. Clin Chim Acta. 2021 Oct;521:177-190. doi: 10.1016/j.cca.2021.07.017. Epub 2021 Jul 17. Clin Chim Acta. 2021. PMID: 34280392

5

Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene.

Kotecha UH, Movva S, Sharma D, Verma J, Puri RD, Verma IC. Kotecha UH, et al. Among authors: verma j, verma ic. Indian J Med Res. 2014 Jul;140(1):55-9. Indian J Med Res. 2014. PMID: 25222778 Free PMC article.

6

Inherited metabolic disorders: Quality management for laboratory diagnosis.

Verma J, Thomas DC, Sharma S, Jhingan G, Singh A, Hsiao KJ, Schoonderwoerd K, Puri RD, Verma IC. Verma J, et al. Among authors: verma ic. Clin Chim Acta. 2015 Jul 20;447:1-7. doi: 10.1016/j.cca.2015.04.040. Epub 2015 May 10. Clin Chim Acta. 2015. PMID: 25970129

7

Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders.

Verma J, Thomas DC, Kasper DC, Sharma S, Puri RD, Bijarnia-Mahay S, Mistry PK, Verma IC. Verma J, et al. Among authors: verma ic. JIMD Rep. 2017;31:15-27. doi: 10.1007/8904_2016_548. Epub 2016 Mar 24. JIMD Rep. 2017. PMID: 27008195 Free PMC article.

8

MoM cutoffs for variables, an important tool for multivariate analysis and accurate interpretation of preeclampsia risk in high-risk pregnancy at 11-13⁺⁶ weeks gestation.

Verma J, Thomas DC, Jhingan G, Puri RD, Verma IC. Verma J, et al. Among authors: verma ic. Hypertens Pregnancy. 2016 Nov;35(4):548-558. doi: 10.1080/10641955.2016.1211675. Epub 2016 Sep 6. Hypertens Pregnancy. 2016. PMID: 27599037 Free article.

9

Prenatal Diagnosis of Lysosomal Storage Disorders Using Chorionic Villi.

Verma J, Bijarnia-Mahay S, Verma IC. Verma J, et al. Among authors: verma ic. Methods Mol Biol. 2017;1594:265-291. doi: 10.1007/978-1-4939-6934-0_18. Methods Mol Biol. 2017. PMID: 28456990

10

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Bijarnia-Mahay S, Häberle J, Jalan AB, Puri RD, Kohli S, Kudalkar K, Rüfenacht V, Gupta D, Maurya D, Verma J, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Among authors: verma j, verma ic. Orphanet J Rare Dis. 2018 Oct 1;13(1):174. doi: 10.1186/s13023-018-0908-1. Orphanet J Rare Dis. 2018. PMID: 30285816 Free PMC article.

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