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Updated: Mar 13, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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Ethylmalonic Encephalopathy in an Indian Boy

Sunita Bijarnia-Mahay1, Deepti Gupta, Yosuke Shigematsu

  • 1Institute of Medical Genetics and Genomics and $Department of Molecular Genetics, Sir Ganga Ram Hospital, New Delhi, India; *Department of Health Science, University of Fukui, Japan; and #Department of Pediatrics, Shimane University School of Medicine, Izumo, Shimane, Japan. Correspondence to: Dr Sunita Bijarnia-Mahay, Senior Consultant and Associate Professor, GRIPMER, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110 060, India. bijarnia@gmail.com.

Indian Pediatrics
|October 25, 2016
PubMed
Summary

Ethylmalonic encephalopathy (EE) is a rare metabolic disorder. Early recognition of its distinct clinical signs aids diagnosis in affected children.

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