Inborn Errors of Metabolism made SUPER LOGICAL!!!! PART I

Описание к видео Inborn Errors of Metabolism made SUPER LOGICAL!!!! PART I

PKU? MSUD? OTC deficiency? IEMs CONFUSE everyone!!! But watch this video and fully UNDERSTAND them forever!! We go over the BASICS of IEMs and how they are caused by problems in enzymatic pathways- giving EXAMPLES at every step. What is an IEM?? What causes them? How are they inherited? How common are they?
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Dr. Tala is a board-certified neonatologist and has worked in busy level III and IV units for the past 15 years. She has won multiple teaching awards throughout her time as a neonatologist.
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References:
Fanaroff and Martin Neonatal-Perinatal Medicine

Fatih Ezgu, Chapter Seven - Inborn Errors of Metabolism,
Editor(s): Gregory S. Makowski, Advances in Clinical Chemistry, Elsevier, Volume 73, 2016, Pages 195-250, ISSN 0065-2423, ISBN 9780128046906

Ferreira CR, Rahman S, Keller M, Zschocke J; ICIMD Advisory Group. An international classification of inherited metabolic disorders (ICIMD). J Inherit Metab Dis. 2021 Jan;44(1):164-177. doi: 10.1002/jimd.12348. PMID: 33340416; PMCID: PMC9021760

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Datta AK, Ghosh T, Nayak K, Ghosh M. Menkes kinky hair disease: A case report. Cases J. 1, 1, 158. 2008. doi:10.1186/1757-1626-1-158. PMID 18801184

Uploaded a work by Sydney S. Gellis and Murray Feingold from Atlas of mental retardation syndromes; visual diagnosis of facies and physical findings with UploadWizard

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**TIMESTAMPS**
00:25 What is an IEM?
15:11 How common are IEMs?
17:43 How are IEMs inherited?
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*Disclaimer*: This video is intended for educational purposes only and while
we strive to give the most accurate information, errors may occur. Subsequently,
this video should not be a replacement for medical advice.

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