Publications by authors named "M K S Parihar"
There have been considerable advances in diagnosing and treating bleeding disorders. But the scenario remains dismal in resource-constrained settings in low and lower-middle-income countries (LMICs). Seventy-five percent of the patients with inherited bleeding disorders do not get diagnosed in LMICs.
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- Ataxia telangiectasia (A-T) is a rare genetic disorder that leads to neurological issues, immune system problems, cancer risk, and other health concerns due to a mutation in the ATM protein, which is crucial for responding to DNA damage.
- CD98HC is a protein that helps transport amino acids in cells, and when ATM is not functioning properly, it affects the transporters linked to A-T symptoms, leading to issues like telangiectasia and diabetes.
- Research shows that addressing the amino acid transport imbalance can help restore metabolic health in cells lacking ATM, highlighting the potential benefits of N-acetyl cysteine in reducing toxic glutamate levels and improving overall cell function in A-T patients.