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

  Рет қаралды 97,355

Osmosis from Elsevier

Osmosis from Elsevier

Күн бұрын

What is Pompe disease? Pompe disease, also called glycogen storage disease type II, is a genetically inherited condition caused by insufficient functioning of an enzyme called lysosomal acid alpha-1,4-glucosidase, or just acid alpha-glucosidase, due to a mutation of the GAA gene. Find our full video library only on Osmosis: osms.it/more.
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Пікірлер: 50
@chickentoes7513
@chickentoes7513 2 жыл бұрын
As someone who has it this is great explaining
@osmosis
@osmosis 2 жыл бұрын
Appreciate the feedback! 🙏🏼
@chickentoes7513
@chickentoes7513 2 жыл бұрын
@@osmosis anytime !! I love watching your videos there so interesting
@amaliamuthalif739
@amaliamuthalif739 2 жыл бұрын
How is it? Are you getting your treatment? My 3 year old daughter was diagnosed with it
@chickentoes7513
@chickentoes7513 Жыл бұрын
⁠@@amaliamuthalif739I have been getting my treatment ever since I was 2
@FwuffyMD
@FwuffyMD 4 жыл бұрын
We have SGD about this today. Thank you!
@akshatajadhav3893
@akshatajadhav3893 2 жыл бұрын
Same I'm also watching it for sgd😂dmsf🥳❤🙌🏻
@javiersanchez1218
@javiersanchez1218 4 жыл бұрын
How did I get to watching this? I'm hella high bro
@CelticStoic
@CelticStoic 3 ай бұрын
I'm about to join you lol
@joshuabailey2746
@joshuabailey2746 6 ай бұрын
If your child has this do not let doctors glue them to a bed. Or try to force you into getting trachs ports or g tubes. The hospital to try to trap your children in their walls and won't let you out without forcing you through programs and in home nursing it's truly a nightmare how they'll get your kid sick and invade your life
@khaled1990
@khaled1990 4 жыл бұрын
Very informative, Thank you !
@juliri_3901
@juliri_3901 2 жыл бұрын
It’s very helpful and vivid!!Thank you!
@osmosis
@osmosis 2 жыл бұрын
Most welcome! 🙏🏼
@perarivalans2060
@perarivalans2060 4 жыл бұрын
Type 111 cori disease Type 1V Anderson Type V Mc Ardle Type VI Hers Video please I'm waiting
@kevinlaverge2769
@kevinlaverge2769 Жыл бұрын
Thanks for the vid. Can you do video what would happen if pompe in combination with ketosis
@Aesthetics.Torres
@Aesthetics.Torres 4 жыл бұрын
Fantastic! Thank you- love your vids.
@RoMayDrako
@RoMayDrako Жыл бұрын
I am here because according to 23 & me I contain a gene. About my mid teen years I had slight breathing issues, getting worse with age. No cause everything common has been ruled out. I also struggle with increasing weakness in my legs and hips. I still don't fully understand the late onset symptoms but it has me curious.
@JonathanCWard
@JonathanCWard 9 ай бұрын
Same. At 17-18 I had issues where it seemed like my lungs collapsed. Was hard to regain breathing. Gasping for air like a fish out of water. Went away maybe after 6 months. Still no clue what it was and doctors never diagnosed it.
@F3ND1MUS
@F3ND1MUS 29 күн бұрын
I think i might have this how do i get tested please anyone help ty
@user-pq2jh4xk1u
@user-pq2jh4xk1u 3 жыл бұрын
Though its like a chemistry class😲thnkz
@aminastrawberry6603
@aminastrawberry6603 2 жыл бұрын
This was our test 😊
@user-pq2jh4xk1u
@user-pq2jh4xk1u 3 жыл бұрын
Also biology🤩anyway you've put a lot efforts and so described it.....
@minnie7827
@minnie7827 4 жыл бұрын
Excellent!
@joycebenny9450
@joycebenny9450 4 жыл бұрын
Thank you
@chriscash7779
@chriscash7779 4 жыл бұрын
EXCELLENT...TY.
@ЭндокринологЭлбекМаматкулов
@ЭндокринологЭлбекМаматкулов 4 жыл бұрын
Thank you. You are great👍. You are doing very useful videos.
@dr.vaishnavipatankar301
@dr.vaishnavipatankar301 3 жыл бұрын
Please put video of coris, MC ardles disease
@docteurgodson4104
@docteurgodson4104 3 жыл бұрын
Please contact us via WhatsApp 0022991380659 for more informations
@gracechi4469
@gracechi4469 4 жыл бұрын
丅hank you .
@footballsgreatest2645
@footballsgreatest2645 3 жыл бұрын
Does a ketogenic diet potentially help with this condition?
@kingviper4994
@kingviper4994 3 ай бұрын
good
@juanitaj5248
@juanitaj5248 Жыл бұрын
is TUDCA something that has been studied for Pompe ? My son passed from this,
@lajesq176
@lajesq176 3 жыл бұрын
Question. If late onset disease is recessive, then how is it those with the disease are able to make any functional protein at all?
@victoremmanuelajwang6432
@victoremmanuelajwang6432 5 ай бұрын
Given the variability in the presentation of LSDs, intracellular glycogen accumulation which is central to the pathology in this case is dependent on the residual activity of acid alpha glucosidase, there's a slower rate of accumulation within lysosomes and cytoplasm in individuals with ≥2% enzyme activity, disease typically presents in enzyme activity
@vishalranjansingh4142
@vishalranjansingh4142 4 жыл бұрын
Awesome👌👌
@ouiemfrs4373
@ouiemfrs4373 4 жыл бұрын
thank you, you're the best 💜
@lamia8953
@lamia8953 2 жыл бұрын
Thanks ♥️
@worldaround6520
@worldaround6520 2 жыл бұрын
Thanks....
@osmosis
@osmosis 2 жыл бұрын
Welcome! 😊
@sagarboss2004
@sagarboss2004 3 жыл бұрын
Super Video
@dr.vaishnavipatankar301
@dr.vaishnavipatankar301 3 жыл бұрын
Please put other 6 glycogen storage diseases
@docteurgodson4104
@docteurgodson4104 3 жыл бұрын
Please contact us via WhatsApp 0022991380659 for more informations
@lajesq176
@lajesq176 3 жыл бұрын
OMG! There are six more of these diseases!
@user-rs2bn8oe7u
@user-rs2bn8oe7u 2 ай бұрын
My son has this disease😢😢😢
@sahebbhowmick6409
@sahebbhowmick6409 2 жыл бұрын
My child has it if any one can help so please contact
@ALVAREZ199814
@ALVAREZ199814 3 жыл бұрын
is this about humans or
@Asquare369
@Asquare369 2 жыл бұрын
💛
@pompeii7237
@pompeii7237 4 жыл бұрын
Ahem it’s pronounced pompeeeeee
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