S
Seema Kapoor
Researcher at Madigan Army Medical Center
Publications - 33
Citations - 227
Seema Kapoor is an academic researcher from Madigan Army Medical Center. The author has contributed to research in topics: Newborn screening & Homocysteine. The author has an hindex of 9, co-authored 33 publications receiving 190 citations. Previous affiliations of Seema Kapoor include All India Institute of Medical Sciences & Maulana Azad Medical College.
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Journal ArticleDOI
Intellectual disability in Indian children: experience with a stratified approach for etiological diagnosis
Silky Jain,Veena Chowdhury,Monica Juneja,Madhulika Kabra,Sanjeev Kumar Pandey,Ankur Singh,Malobika Bhattacharya,Seema Kapoor,Seema Kapoor +8 more
TL;DR: It is possible to ascertain the diagnosis in most of the cases of intellectual disability using a judicious and sequential battery of tests.
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National newborn screening program — Still a hype or a hope now?
TL;DR: The evolution of newborn screening and the way to carry it forward in the country are discussed and the current strengths, the major obstacles and gritty challenges are enlisted.
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Evaluation of C677T polymorphism of the methylenetetra hydrofolate reductase gene and its association with levels of serum homocysteine, folate, and vitamin B12 as maternal risk factors for Down syndrome.
Pankaj K Mohanty,Seema Kapoor,Anand P Dubey,Sanjeev Kumar Pandey,Renuka Shah,Hemant K Nayak,Sunil Kumar Polipalli +6 more
TL;DR: Serum levels of folate were low in cases and no association of serum vitamin B12 with MTHFR polymorphism in occurrence of Down syndrome births was found, suggesting peri- or preconceptional folate supplementation may lead to a decline in DS births, if supported by larger studies.
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An Indian boy with griscelli syndrome type 2: Case report and review of literature
TL;DR: This work evaluated phenotype of all 10 cases of genotype (c.C550T; p.R184X), collected from published literature worldwide and emphasize the potential role of above mutation as hotspot in Southeast Asian region.
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Infantile Onset Spinocerebellar Ataxia 2 (SCA2): A Clinical Report With Review of Previous Cases
TL;DR: A patient with infantile-onset spinocerebellar ataxia type 2 who inherited the disease from his father (47 CAG repeats) is described to help treating clinicians to suspect this disorder and to offer timely genetic counseling for a currently potentially untreatable disorder.