Fabry disease - causes, symptoms, diagnosis, treatment, pathology
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- čas přidán 8. 12. 2019
- What is Fabry disease? Fabry disease is a rare X-linked condition caused by mutations or pathogenic variants in the GLA gene that codes for a lysosomal enzyme called alpha galactosidase A or alpha-gal A.
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Our Vision: Everyone who cares for someone will learn by Osmosis.
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Medical disclaimer: Osmosis from Elsevier does not provide medical advice. Osmosis from Elsevier and the content available on the Osmosis from Elsevier properties (Osmosis.org, CZcams, 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 healthcare provider. Always seek the advice of a physician or other qualified healthcare professional with any questions you have regarding a medical condition.
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نشكركم على الجهود التي تبذلها لشرح كثير من المواضيع الطبية النادرة، اتمنى ان اكون مشترك معكم، وتعلمونا على كل جديد.
Could you please update the playlist? It's difficult to scroll through a lot of videos.
Thank you very much!
Well clear,100%
I am the Clinician with a different!
Thank you so much
Supercool, as usual
My father in law has this. Thanks for the info
Can you please make a video on Stickler Syndrome?
Could you include more detailed info in your videos please🙏🏻?
Thank you
please make video on caroli disease
Thank you so much .. very clear !
Glad to hear that! Thanks, Nadia! 🙌🏼
I have this and I’m really scared because I’m barely 21 and I don’t want to die young... I was told I had protein in my urine along time ago. As a child I didn’t take it seriously, haven’t been checked in a while, but my Urine is very smelly and cloudy.. 😕 I just wish I didn’t have to deal with this.. I want a normal life
Vivienne V any other symptoms that you had??
If you have Fabry disease i advise you to take it seriously by taking the treatment you are lucky to diagnosed it before affecting your kidney. My brother he’s 23 and he has kidney failure because of Fabry and he did not know that he has it . Start your treatment to save your organs and you gonna have a normal life. its just an advice .
I have it to not very scared tho
They diagnosed me at 13 I think so I’ve been getting treated every 2 weeks
Do not be scared! Periodic water fasting for at least 3 days once a month will help cleanse and reset your system, along with proper diet (look into renal or keto diet), exercise and a healthy lifestyle.
Also avoid alcohol, coffee and smoking.
What would the possible genotypes be?
Slit lamp exam, not split lamp 🙂
2:40 The 2 FDA approved therapies. ERT and Chaperone therapy
❤️ from Fiji 🇫🇯
We love you from Iraq
ini langka ya?
4:20. Nice.
Great video
from Iraq too 😁
What a coincidence!
From yemen😁✌🏻
Why would someone dislike this ?
They’re probably mad they got fabry disease
Because I hate how sick I am...
Just kidding. I am very sick but I would never dislike...
Just making.light of a stupid situation
Yeah bro I have this and in Canada we don't do those two treatments... Actually I've never even heard of them lol
Those treatments are definitely available in Canada. Consider asking your primary care provider for a referral to a Geneticist if you want more information. Hope that helps! :)
@@andreayu4964 it does thanks! I thankfully dont need this treatments but I found it interesting to hear about these because I never have.
How are you now? I hope you are good and healthy.
came from doctor john to learn more about this
Me too!!
Slit lamp* not split lamp
anyone else here just because they can not because they actually need to research on anything
From 🇵🇭🇵🇭🇵🇭
I clicked this video because the name was cute
It does not sound like a cute thing to experience :(
Chimera System I have this 😕
not very cute when get it in ur most important exam
🇸🇦 شكرا.
Its a slit lamp not a split lamp
I have one word “genetics” BTD I have Fabry
reeeeeeeee
Lol
They way you teach is not good.
You started with the mechanism of disease then symptoms and signs. I just watched for 1 minute.
First start with definition of the disease man.
They literally started with the definition - "X linked recessive disease of GLA gene" - what else do you consider to be definition? xD
I find it way easier to understand the signs and symptoms if i already know the mechanism
Make your own video doing it better then….