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Jyotsna Verma

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Articles 25
Citations 143
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Recent Articles
1.
Mishra S, Avinash G, Kundu M, Verma J, Sheth A, Dutta A
J Occup Health . 2024 Dec; 67(1). PMID: 39688540
Objectives: Work-related musculoskeletal disorders (WMSDs) are among the most common occupational diseases, affecting various sectors such as agriculture, small-scale industries, handicrafts, construction, and banking. These disorders, caused by overexertion and...
2.
Singh K, Puri R, Bijarnia-Mahay S, Lall M, Verma J, Saxena R, et al.
Indian Pediatr . 2022 Jun; 59(6):463-466. PMID: 35695141
Objective: To define the spectrum of genetic disorders in patients with short stature visiting the genetic out-patient department in a tertiary care hospital. Methods: A chart review was done for...
3.
Chawla T, Preethish-Kumar V, Polavarapu K, Vengalil S, Bardhan M, Puri R, et al.
J Neuromuscul Dis . 2021 Dec; 9(2):261-273. PMID: 34864681
Background: Late onset Pompe disease (LOPD) is rare and generally manifests predominantly as progressive limb girdle muscle weakness. It is linked to the pathogenic mutations in GAA gene, which leads...
4.
Sandal S, Bijarnia Mahay S, Gupta D, Saxena R, Verma J, Saxena K, et al.
Clin Dysmorphol . 2021 Sep; 31(1):23-27. PMID: 34561315
No abstract available.
5.
Verma J, Roy P, Thomas D, Puri R, Verma I
Clin Chim Acta . 2021 Jul; 521:177-190. PMID: 34280392
Background & Aims: Lysosomal storage disorders (LSDs) remain a significant cause of morbidity in the Indian population and treatment is largely out of reach for most patients. Although data on...
6.
Puri R, Setia N, N V, Jagadeesh S, Nampoothiri S, Gupta N, et al.
Neuromuscul Disord . 2021 Mar; 31(5):431-441. PMID: 33741225
We evaluated the clinical histories, motor and pulmonary functions, cardiac phenotypes and GAA genotypes of an Indian cohort of twenty patients with late onset Pompe disease (LOPD) in this multi-centre...
7.
Thomas D, Sharma S, Puri R, Verma I, Verma J
Clin Biochem . 2020 Dec; 89:14-37. PMID: 33301762
Objectives: Diagnosis of lysosomal storage disorders (LSDs) remains challenging due to wide clinical, biochemical and molecular heterogeneity. The study applies a combined biochemical and genetic approach to diagnose symptomatic Indian...
8.
Sandal S, Razdan T, Verma J, Dubey S, Ghosh A, Saxena R, et al.
Clin Dysmorphol . 2020 Dec; 30(2):110-114. PMID: 33290291
No abstract available.
9.
Mishra R, Verma J, Sheth S, Verma I, Puri R
Neurol India . 2020 Aug; 68(4):941-942. PMID: 32859851
No abstract available.
10.
Verma J, Roy P, Thomas D, Jhingan G, Singh A, Bijarnia-Mahay S, et al.
J Pediatr Intensive Care . 2020 Jan; 9(1):40-44. PMID: 31984156
Newborn screening (NBS) aims toward early detection of treatable congenital disorders. From January 2008 through December 2017, 13,376 newborns were screened for congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and...