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Updated: Mar 15, 2026

LERLIC-MS/MS for In-depth Characterization and Quantification of Glutamine and Asparagine Deamidation in Shotgun Proteomics
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Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy

Sunita Bijarnia-Mahay1, Vivek Jain, Rajiv Kumar Bansal

  • 1Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, *Department of Pediatrics, Santokba Durlabhji Memorial Hospital, Jaipur; and Department of Biochemical Genetics, Sandor Lifesciences Pvt. Ltd., Hyderabad; India; and Division of Metabolism, University Childrens Hospital Zurich, Switzerland Correspondence to: Dr Sunita Bijarnia Mahay, Senior Consultant, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110 060. bijarnia@gmail.com.

Indian Pediatrics
|August 29, 2016
PubMed
Summary

Lysinuric protein intolerance, a genetic disorder affecting amino acid transport, can lead to hyperammonemia. Early diagnosis and management of this treatable condition ensure normal neurodevelopmental outcomes.

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