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IEM & Rare Genetic Diseases
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Dr Archibald Edward Garrod
Gene&Gene Mutation
Metabolic Acidosis
Unusual Smell In Urine?
Body regulates thousands of metabolic reactions simultaneously
The Role of Neuroimaging in Diagnosis and Treatment of inborn errors of metabolism
During Gestation
Did You know?
Can you believe?
Blood Gases
What Is Cell ?
Proteins
Metabolic Pathways
ESSENTIAL / NONESSENTIL AMINO ACIDS
Few UseFul Marker In IEM
Pyruvate Metabolism
THE MISFITS
GENETIC COUNSELLING
REVIEW(IEM)
Over the last 3 decades many new and effective therapies.....
Essential role of medical food for IEM
"Criterion for including a test in NBS Panel"
Current Treatment Strategies(IEM)
Benefit of newborn screening
Robert Guthrie 08/06/2020
Metabolism Summary
