Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome

Introduction: Organic Acidurias (OA) accounts between 10% and 40% of confirmed Inborn Errors of Metabolism (IEM) in India. With prompt recognition and management, better survival but adverse neurodevelopmental outcome is reported. Aim: To study the clinical and metabolic presentation, managemen...

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Bibliographic Details
Main Authors: Seema Pavaman Sindgikar, Krithika Damodar Shenoy, Nutan Kamath, Rathika Shenoy
Format: Article
Language:English
Published: JCDR Research and Publications Private Limited 2017-09-01
Series:Journal of Clinical and Diagnostic Research
Subjects:
Online Access:https://jcdr.net/articles/PDF/10632/28793_CE[Ra]_F(Sh)PF1-(SY_MJ_PY)_PFA(VJ_AP).pdf