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Fabry disease - causes, symptoms, diagnosis, treatment, pathology 

Osmosis from Elsevier
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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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15 окт 2024

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Комментарии : 59   
@محمدمحمودمحمود-ذ9ق
نشكركم على الجهود التي تبذلها لشرح كثير من المواضيع الطبية النادرة، اتمنى ان اكون مشترك معكم، وتعلمونا على كل جديد.
@josephphiri8893
@josephphiri8893 4 года назад
Thank you very much! Well clear,100% I am the Clinician with a different!
@sathyashreed5163
@sathyashreed5163 4 года назад
Could you please update the playlist? It's difficult to scroll through a lot of videos.
@daniieevans1898
@daniieevans1898 4 года назад
My father in law has this. Thanks for the info
@Jomannex
@Jomannex 4 года назад
Can you please make a video on Stickler Syndrome?
@lll3388
@lll3388 4 года назад
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
@Zeus-kg1of
@Zeus-kg1of 4 года назад
Vivienne V any other symptoms that you had??
@mohamedsebbar2626
@mohamedsebbar2626 2 года назад
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 .
@pheonixgames4061
@pheonixgames4061 2 года назад
I have it to not very scared tho
@pheonixgames4061
@pheonixgames4061 2 года назад
They diagnosed me at 13 I think so I’ve been getting treated every 2 weeks
@friendatad3777
@friendatad3777 Год назад
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.
@nadiabnb855
@nadiabnb855 10 месяцев назад
Thank you so much .. very clear !
@osmosis
@osmosis 10 месяцев назад
Glad to hear that! Thanks, Nadia! 🙌🏼
@АлинаАлесиёнок
@АлинаАлесиёнок 4 года назад
Thank you so much Supercool, as usual
@rachellopez1299
@rachellopez1299 4 года назад
Could you include more detailed info in your videos please🙏🏻?
@inesines5012
@inesines5012 2 года назад
Thank you
@khaledabujamous3867
@khaledabujamous3867 3 месяца назад
Thank you!
@osmosis
@osmosis 3 месяца назад
You're welcome! 🙏🏼
@idrisd52
@idrisd52 4 года назад
please make video on caroli disease
@sabinaadhikari5574
@sabinaadhikari5574 4 года назад
Slit lamp exam, not split lamp 🙂
@cooljjatin
@cooljjatin 4 года назад
Why would someone dislike this ?
@mommywithnokidsss
@mommywithnokidsss 3 года назад
They’re probably mad they got fabry disease
@Broxalax
@Broxalax 3 года назад
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
@alaaajeel7558
@alaaajeel7558 4 года назад
We love you from Iraq
@camiverge691
@camiverge691 4 года назад
Yeah bro I have this and in Canada we don't do those two treatments... Actually I've never even heard of them lol
@andreayu4964
@andreayu4964 4 года назад
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! :)
@camiverge691
@camiverge691 4 года назад
@@andreayu4964 it does thanks! I thankfully dont need this treatments but I found it interesting to hear about these because I never have.
@adarshkori9570
@adarshkori9570 2 года назад
How are you now? I hope you are good and healthy.
@ahmedahm1
@ahmedahm1 4 года назад
2:40 The 2 FDA approved therapies. ERT and Chaperone therapy
@kasia_1013
@kasia_1013 2 года назад
What would the possible genotypes be?
@raniasaleh8981
@raniasaleh8981 2 года назад
came from doctor john to learn more about this
@adarshkori9570
@adarshkori9570 2 года назад
Me too!!
@afinawafda3799
@afinawafda3799 3 года назад
ini langka ya?
@victorhugodavilalorenz4793
@victorhugodavilalorenz4793 4 года назад
4:20. Nice.
@mixo4330
@mixo4330 4 года назад
From yemen😁✌🏻
@nivaashnakumar2435
@nivaashnakumar2435 4 года назад
❤️ from Fiji 🇫🇯
@totoroisod
@totoroisod 4 года назад
Slit lamp* not split lamp
@husseinnazar2907
@husseinnazar2907 4 года назад
Great video from Iraq too 😁 What a coincidence!
@annamariaharmathova1017
@annamariaharmathova1017 3 года назад
Its a slit lamp not a split lamp
@sad_doggo2504
@sad_doggo2504 4 года назад
I clicked this video because the name was cute It does not sound like a cute thing to experience :(
@lll3388
@lll3388 4 года назад
Chimera System I have this 😕
@b0rdn-da-k1ng84
@b0rdn-da-k1ng84 4 года назад
not very cute when get it in ur most important exam
@lucywilson9414
@lucywilson9414 4 года назад
anyone else here just because they can not because they actually need to research on anything
@cxx10
@cxx10 4 года назад
From 🇵🇭🇵🇭🇵🇭
@u76
@u76 4 года назад
🇸🇦 شكرا.
@Wooden_Puppet.
@Wooden_Puppet. 3 года назад
I have one word “genetics” BTD I have Fabry
@MimePka
@MimePka 4 года назад
reeeeeeeee
@garymericano
@garymericano 2 года назад
Lol
@AyazKhan-ti8xw
@AyazKhan-ti8xw 4 года назад
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.
@TheVisionary95
@TheVisionary95 4 года назад
They literally started with the definition - "X linked recessive disease of GLA gene" - what else do you consider to be definition? xD
@alexandrucindrea7159
@alexandrucindrea7159 4 года назад
I find it way easier to understand the signs and symptoms if i already know the mechanism
@garymericano
@garymericano 2 года назад
Make your own video doing it better then….
@hebahammoudi7160
@hebahammoudi7160 Месяц назад
Thank you
@osmosis
@osmosis Месяц назад
Welcome! 💕🥰🫀
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