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
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.
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.
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
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As someone who has it this is great explaining
Appreciate the feedback! 🙏🏼
@@osmosis anytime !! I love watching your videos there so interesting
How is it? Are you getting your treatment? My 3 year old daughter was diagnosed with it
@@amaliamuthalif739I have been getting my treatment ever since I was 2
We have SGD about this today. Thank you!
Same I'm also watching it for sgd😂dmsf🥳❤🙌🏻
Very informative, Thank you !
It’s very helpful and vivid!!Thank you!
Most welcome! 🙏🏼
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
How did I get to watching this? I'm hella high bro
I'm about to join you lol
Fantastic! Thank you- love your vids.
Type 111 cori disease
Type 1V Anderson
Type V Mc Ardle
Type VI Hers
Video please
I'm waiting
Thank you. You are great👍. You are doing very useful videos.
Thanks for the vid. Can you do video what would happen if pompe in combination with ketosis
Excellent!
Also biology🤩anyway you've put a lot efforts and so described it.....
Thank you
EXCELLENT...TY.
Awesome👌👌
Though its like a chemistry class😲thnkz
Thanks ♥️
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.
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.
This was our test 😊
丅hank you .
Does a ketogenic diet potentially help with this condition?
thank you, you're the best 💜
Thanks....
Welcome! 😊
Super Video
I think i might have this how do i get tested please anyone help ty
Please put video of coris, MC ardles disease
Please contact us via WhatsApp 0022991380659 for more informations
Question. If late onset disease is recessive, then how is it those with the disease are able to make any functional protein at all?
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
good
is TUDCA something that has been studied for Pompe ? My son passed from this,
Please put other 6 glycogen storage diseases
Please contact us via WhatsApp 0022991380659 for more informations
OMG! There are six more of these diseases!
My son has this disease😢😢😢
My child has it if any one can help so please contact
💛
is this about humans or
Ahem it’s pronounced pompeeeeee