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Prevalence of multiple micronutrient deficiencies amongst pregnant women in a rural area of Haryana
Deficiencies of micronutrients (zinc, iron, folic acid and iodine) during pregnancy are known causes of Low Birth Weight (LBW). Studies have documented status of one or two micronutrients amongst… Expand
Hydroxyurea in thalassemia intermedia—a promising therapy
Pharmacological agents such as hydroxyurea (HU) have been known to cause induction of fetal hemoglobin and possibly may alleviate the symptoms in thalassemia intermedia patients. Thirty-seven… Expand
Spectrum of haemoglobinopathies diagnosed by cation exchange-HPLC & modulating effects of nutritional deficiency anaemias from north India
- S. Rao, R. Kar, S. Gupta, A. Chopra, R. Saxena
- Biology, Medicine
- The Indian journal of medical research
- 1 November 2010
Background & objectives: The usefulness of cation exchange high performance liquid chromatography (CE-HPLC) as a tool for detection of thalassaemia/haemoglobin variants was evaluated in a prospective… Expand
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family
Spinocerebellar ataxia 12 (SCA12) is an autosomal dominant cerebellar ataxia (ADCA) described in a single family with a CAG repeat expansion in the PPP2R2B gene. We screened 247 index cases,… Expand
Inherited platelet function disorders versus other inherited bleeding disorders: an Indian overview.
Inherited deficiencies of plasma proteins involved in blood coagulation generally lead to lifelong bleeding disorders, whose severity is directly proportional to the degree of factor deficiency.… Expand
Regional distribution of beta-thalassemia mutations in India.
We have characterized the mutations in 1050 carriers of the beta-thalassemia gene and analyzed their regional distribution in India. The majority of beta-thalassemia carriers were migrants from… Expand
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure
- C. Beetz, Adam J. Johnson, +13 authors A. Audhya
- Biology, Medicine
- Proceedings of the National Academy of Sciences
- 11 March 2013
Hereditary spastic paraplegias are a clinically and genetically heterogeneous group of gait disorders. Their pathological hallmark is a length-dependent distal axonopathy of nerve fibers in the… Expand
Regional distribution of β-thalassemia mutations in India
Abstract We have characterized the mutations in 1050 carriers of the β-thalassemia gene and analyzed their regional distribution in India. The majority of β-thalassemia carriers were migrants from… Expand
Inherited prothrombotic defects in Budd-Chiari syndrome and portal vein thrombosis: a study from North India.
- M. Bhattacharyya, G. Makharia, M. Kannan, R. Ahmed, P. Gupta, R. Saxena
- American journal of clinical pathology
- 1 June 2004
We studied 57 patients with Budd-Chiari syndrome (BCS) and 48 with portal vein thrombosis (PVT) for underlying inherited prothrombotic defects such as protein C, protein S, and antithrombin III… Expand
Regulatory T cells: a review.
Regulatory T cells (Tregs) play a pivotal role in the homeostasis of the immune system and in the modulation of the immune response. Tregs have emerged as key players in the development and… Expand