When to think of Inborn Error of Metabolism in a newborn - a simplified approach

Описание: Dr Shivangi Tetarbe talks about When to think of Inborn Error of Metabolism in a newborn.

Lecture consist of:
What is Inborn Error of Metabolism (IEM)
IEM Matters in Newborns
Possible presentations of IEM in neonatal period
Differential Diagnosis of IEM in the Neonatal Period
Additional history for Inborn Error of Metabolism (IEM)
Clinical Clues in the Newborn
Investigations for Inborn Error of Metabolism (IEM)
Role of urine GCMS and blood TMS in diagnosing an IEM
Genetic testing
Interpret Whole Exome sequencing

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