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Search results with tag "Inborn errors of metabolism"

Approach to inborn errors of metabolism presenting in the ...

www.newbornwhocc.org

AIIMS- NICU protocols 2010 Inborn errors of metabolism (IEM) are disorders in which there is a block at some point in the normal metabolic pathway caused by a genetic defect of a specific enzyme.

  Errors, Presenting, Metabolism, Inborn, Inborn errors of metabolism, Inborn errors of metabolism presenting

Guideline: Neonatal jaundice - Queensland Health

www.health.qld.gov.au

• Check NST for inborn errors of metabolism (repeat) • Consider: o G6PD screen; transferase deficiency and red cell membrane disorders o CF–sweat test/genetic markers o Inborn errors of metabolism o Urine MCS, CMV and reducing substances o Abdominal ultrasound

  Guidelines, Neonatal, Errors, Metabolism, Inborn, Jaundice, Inborn errors of metabolism, Neonatal jaundice

Inborn Errors of Metabolism - SSIEM

www.ssiem.org

1.3. Disorders of the metabolism of bra nched-chain amino acids not classified as organic acidurias

  Errors, Metabolism, Inborn, Inborn errors of metabolism

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Inborn errors of metabolism presenting, Inborn Errors of Metabolism, Guideline: Neonatal jaundice