Padma Balaji

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L-2-hydroxyglutaric aciduria (L-2-HGA), a neurometabolic disorder caused by mutations in the L-2 hydroxyglutarate dehydrogenase (L-2-HGDH) gene, presents with psychomotor retardation, cerebellar ataxia, extrapyramidal symptoms, macrocephaly and seizures. Characteristic magnetic resonance imaging findings include subcortical cerebral white matter(More)
Acute myocardial infarction (AMI) due to coronary artery disease is a leading cause of death in both the developed and developing countries. The advent of coronary care units and early reperfusion therapy (Thrombolytic and Percutaneous Coronary Intervention) has substantially decreased in-hospital mortality rates and has improved the outcome in survivors of(More)
This study reports the clinical, laboratory profile and outcome in seven patients with biotinidase deficiency. The serum biotinidase activity was assayed using spectrophotometric analysis. The age at presentation varied from day 1 of life to the 5 th month. Seizures were the presenting complaint in six patients and clonic seizures were the predominant(More)
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