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Indian Journal Of Practical Pediatrics

INBORN ERRORS OF METABOLISM - I

1 Recognizing red flags in inborn errors of metabolism – Clinical presentation and alerts

2 Laboratory workup in suspected IEM - A stepwise approach (biochemical tests, metabolic panel, interpretation pitfalls)

3 Genetic testing in inborn errors of metabolism
4 Recognising treatable inborn errors of metabolism in children with developmental delay, autism, epilepsy, movement disorder or cerebral palsy mimics
5 Glycogen storage disorders - Diagnostic approach, management and recent advances

6 Neuroimaging in inborn errors of metabolism - Diagnostic pattern and clinical implications
7 Application of therapeutic monoclonal antibodies and Fc fusion proteins in pediatrics
8 Recent updates in delivery room practices
9 Growth charts
10 Infantile systemic hyalinosis due to homozygous deletion mutation (c.1074delt) in anthrax toxin receptor2