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Congenital Hyperinsulinemic Hypoglycemia and Hyperammonemia due to Pathogenic Variants in GLUD1 |
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| Authors: | Roy Kakali Satapathy Amit Kumar Houhton Jayne A. L. Flanagan Sarah E. Radha Venkatesan Mohan Viswanathan Sharma Rajni Jain Vandana |
| Affiliation: | 1.Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India ;2.Department of Pediatrics, All India Institute of Medical Sciences, Bhubaneswar, India ;3.Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK ;4.Department of Molecular Genetics, Madras Diabetes Research Foundation, Chennai, India ;5.Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India ; |
| Abstract: | Indian Journal of Pediatrics - Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous disorder, characterized by dysregulated insulin secretion. Pathogenic variants in at... |
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