Archive for the tag: storage

Glycogen Storage Diseases

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Glycogen Storage Diseases

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My goal is to reduce educational disparities by making education FREE.
These videos help you score extra points on medical school exams (USMLE, COMLEX, etc.)
For educational purposes only; NOT medical or other advice.
Some videos contain mild profanity and hyperbole solely used to assist with memorization. Viewer discretion advised.
Opinions are entirely my own.

​​SUPPORT/JOIN THE CHANNEL: https://www.youtube.com/channel/UCZaDAUF7UEcRXIFvGZu3O9Q/join

My goal is to reduce educational disparities by making education FREE.
These videos help you score extra points on medical school exams (USMLE, COMLEX, etc.)
For educational purposes only; NOT medical or other advice.
Some videos contain mild profanity and hyperbole solely used to assist with memorization. Viewer discretion advised.
Opinions are entirely my own.
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Lysosomal Storage Diseases | Overview and What You Need to Know

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Lysosomal Storage Diseases  | Overview and What You Need to Know

Overview of Lysosomal Storage Diseases including Cystinosis, Fabry’s disease, Gaucher’s disease, Hunter’s disease, Hurler’s disease, Sanfillipo Syndrome, Krabbe’s disease, Niemann-Pick disease, Tay-Sach’s disease. Lysosomal storage diseases are inborn errors of metabolism that are rare conditions inherited through recessive genes. There are many lysosomal storage diseases and each are caused by mutations that reduce the efficacy of lysosomal enzymes or lysosomal transporters, thus resulting in accumulation or “storage” of compounds within the lysosome. Each condition has specific physical findings as well.

In this lesson, we discuss these lysosomal storage diseases, and we discuss a variety of mnemonics we can use to help us remember what we need to know about these conditions.

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Check out some of my other lessons.

Medical Terminology – The Basics – Lesson 1:

Fatty Acid Synthesis Pathway:

Wnt/B Catenin Signaling Pathway:

Upper vs. Lower Motor Neuron Lesions:

Lesson on the Purine Synthesis and Salvage Pathway:

Gastrulation | Formation of Germ Layers:

Introductory lesson on Autophagy (Macroautophagy):

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Rheumatology Playlist

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**MEDICAL DISCLAIMER**: JJ Medicine does not provide medical advice, and the information available on this channel does not offer a diagnosis or advice regarding treatment. Information presented in these lessons is for educational purposes ONLY, and information presented here is not to be used as an alternative to a healthcare professional’s diagnosis and treatment of any person/animal.

Only a physician or other licensed healthcare professional are able to determine the requirement for medical assistance to be given to a patient. Please seek the advice of your physician or other licensed healthcare provider if you have any questions regarding a medical condition.

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*Although I try my best to present accurate information, there may be mistakes in this video. If you do see any mistakes with information in this lesson, please comment and let me know.*

I am always looking for ways to improve my lessons! Please don’t hesitate to leave me feedback and comments – all of your feedback is greatly appreciated! 🙂 And please don’t hesitate to send me any messages if you need any help – I will try my best to be here to help you guys 🙂

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Glycogen storage disease type I – an Osmosis Preview

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Glycogen storage disease type I - an Osmosis Preview

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What is glycogen storage disease type I? Glycogen storage disease type I, also called Von-Gierke’s disease, is a genetic disorder caused by a mutation in the glucose 6 phosphatase gene on chromosome 17. The end result is that glycogen can’t be broken down into glucose in liver cells, so glucose metabolism goes awry, resulting in symptoms like low blood sugar, weakness and poor growth.

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Medical disclaimer: Knowledge Diffusion Inc (DBA Osmosis) does not provide medical advice. Osmosis and the content available on Osmosis’s properties (Osmosis.org, YouTube, and other channels) do not provide a diagnosis or other recommendation for treatment and are not a substitute for the professional judgment of a healthcare professional in diagnosis and treatment of any person or animal. The determination of the need for medical services and the types of healthcare to be provided to a patient are decisions that should be made only by a physician or other licensed health care provider. Always seek the advice of a physician or other qualified healthcare provider with any questions you have regarding a medical condition.