Inborn Errors of Metabolism- What a Clinician needs to know!

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  • เผยแพร่เมื่อ 20 พ.ค. 2020
  • The need to understand inborn errors of metabolism (IEM) has never been stronger than today. These metabolic disorders are inherited, and individually rare, but are numerous and therefore, collectively not uncommon. They have been treated as unimportant since they are rare. On the contrary, their importance lies in the fact that they can be prevented, at least from recurring in a family, and more importantly that many of them are now treatable, with a possibility of a cure in the foreseeable future!
    The easy availability of genetic testing via sequencing of genes using Sanger sequencing or Next Generation Sequencing (NGS) are now benefiting many a patient in making an accurate diagnosis. This is crucial and is of utmost importance for timely treatment and a better prognosis.
    In this lecture, you will be learning about some of the common
    metabolic disorders with following objectives:
    1. Creating awareness about IEM.
    2. Identification of patients in daily practice, both acute and chronic
    presentations.
    3. Diagnostic approaches and algorithms, using real cases
    scenarios.

ความคิดเห็น • 5

  • @muthuramasubramanian7002

    Wonderful presentation on IEM by Dr. Sunitha Bijarnia Madam

  • @rrtbigornia
    @rrtbigornia 2 ปีที่แล้ว

    Quite comprehensive, yet concise and appreciate much if a transcript of the the discussion can be provided...Godspeed and kudos mam

  • @harishreddy4574
    @harishreddy4574 3 ปีที่แล้ว

    superb lecture mam.

  • @hariprasadchaudhari5223
    @hariprasadchaudhari5223 ปีที่แล้ว

    I need you appointment