Тёмный

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

Osmosis from Elsevier
Подписаться 3,2 млн
Просмотров 96 тыс.
50% 1

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.
Join millions of current and future clinicians who learn by Osmosis, along with hundreds of universities around the world who partner with Osmosis from Elseiver to make medical and health education more engaging and efficient. We have unparalleled tools and materials to prepare you for success in school, on your board exams, and as a future clinician. Sign up for a free trial at osms.it/more. If you're interested in exploring an institutional partnership, visit osmosis.org/educators to request a personalized demo.
Follow us on social:
Facebook: osms.it/facebook
Twitter: osms.it/twitter
Instagram for med: osms.it/instagram
Instagram for nursing: osms.it/ignursing
TikTok: osms.it/tiktok
Linkedin: osms.it/linkedin
Our Vision: Everyone who cares for someone will learn by Osmosis.
Our Mission: To empower the world’s clinicians and caregivers with the best learning experience possible. Learn more here: osms.it/mission
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, RU-vid, 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.
© 2024 Elsevier. All rights reserved.

Опубликовано:

 

17 ноя 2019

Поделиться:

Ссылка:

Скачать:

Готовим ссылку...

Добавить в:

Мой плейлист
Посмотреть позже
Комментарии : 49   
@kevinlaverge2769
@kevinlaverge2769 Год назад
Thanks for the vid. Can you do video what would happen if pompe in combination with ketosis
@khaled1990
@khaled1990 4 года назад
Very informative, Thank you !
@Aesthetics.Torres
@Aesthetics.Torres 4 года назад
Fantastic! Thank you- love your vids.
@user-pq2jh4xk1u
@user-pq2jh4xk1u 3 года назад
Also biology🤩anyway you've put a lot efforts and so described it.....
@joshuabailey2746
@joshuabailey2746 5 месяцев назад
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
@FwuffyMD
@FwuffyMD 3 года назад
We have SGD about this today. Thank you!
@akshatajadhav3893
@akshatajadhav3893 2 года назад
Same I'm also watching it for sgd😂dmsf🥳❤🙌🏻
@ЭндокринологЭлбекМаматкулов
Thank you. You are great👍. You are doing very useful videos.
@javiersanchez1218
@javiersanchez1218 4 года назад
How did I get to watching this? I'm hella high bro
@CelticStoic
@CelticStoic 2 месяца назад
I'm about to join you lol
@user-pq2jh4xk1u
@user-pq2jh4xk1u 3 года назад
Though its like a chemistry class😲thnkz
@juliri_3901
@juliri_3901 2 года назад
It’s very helpful and vivid!!Thank you!
@osmosis
@osmosis 2 года назад
Most welcome! 🙏🏼
@chickentoes7513
@chickentoes7513 2 года назад
As someone who has it this is great explaining
@osmosis
@osmosis 2 года назад
Appreciate the feedback! 🙏🏼
@chickentoes7513
@chickentoes7513 2 года назад
@@osmosis anytime !! I love watching your videos there so interesting
@amaliamuthalif739
@amaliamuthalif739 2 года назад
How is it? Are you getting your treatment? My 3 year old daughter was diagnosed with it
@chickentoes7513
@chickentoes7513 11 месяцев назад
⁠@@amaliamuthalif739I have been getting my treatment ever since I was 2
@minnie7827
@minnie7827 4 года назад
Excellent!
@chriscash7779
@chriscash7779 4 года назад
EXCELLENT...TY.
@juanitaj5248
@juanitaj5248 Год назад
is TUDCA something that has been studied for Pompe ? My son passed from this,
@joycebenny9450
@joycebenny9450 4 года назад
Thank you
@aminastrawberry6603
@aminastrawberry6603 2 года назад
This was our test 😊
@vishalranjansingh4142
@vishalranjansingh4142 4 года назад
Awesome👌👌
@perarivalans2060
@perarivalans2060 4 года назад
Type 111 cori disease Type 1V Anderson Type V Mc Ardle Type VI Hers Video please I'm waiting
@gracechi4469
@gracechi4469 4 года назад
丅hank you .
@ouiemfrs4373
@ouiemfrs4373 4 года назад
thank you, you're the best 💜
@sagarboss2004
@sagarboss2004 3 года назад
Super Video
@lamia8953
@lamia8953 2 года назад
Thanks ♥️
@footballsgreatest2645
@footballsgreatest2645 3 года назад
Does a ketogenic diet potentially help with this condition?
@RoMayDrako
@RoMayDrako Год назад
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 8 месяцев назад
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.
@lajesq176
@lajesq176 3 года назад
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 4 месяца назад
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
@kingviper4994
@kingviper4994 Месяц назад
good
@dr.vaishnavipatankar301
@dr.vaishnavipatankar301 3 года назад
Please put video of coris, MC ardles disease
@docteurgodson4104
@docteurgodson4104 3 года назад
Please contact us via WhatsApp 0022991380659 for more informations
@worldaround6520
@worldaround6520 2 года назад
Thanks....
@osmosis
@osmosis 2 года назад
Welcome! 😊
@sahebbhowmick6409
@sahebbhowmick6409 2 года назад
My child has it if any one can help so please contact
@dr.vaishnavipatankar301
@dr.vaishnavipatankar301 3 года назад
Please put other 6 glycogen storage diseases
@docteurgodson4104
@docteurgodson4104 3 года назад
Please contact us via WhatsApp 0022991380659 for more informations
@lajesq176
@lajesq176 3 года назад
OMG! There are six more of these diseases!
@user-rs2bn8oe7u
@user-rs2bn8oe7u 26 дней назад
My son has this disease😢😢😢
@Asquare369
@Asquare369 Год назад
💛
@ALVAREZ199814
@ALVAREZ199814 3 года назад
is this about humans or
@pompeii7237
@pompeii7237 4 года назад
Ahem it’s pronounced pompeeeeee
Далее
Qizim 58-qism | Anons |Nimaga meni bolam o'ladi ?
00:47
Lec 1 part 1 GERD
37:02
Просмотров 8
Sanofi - Living With Pompe Disease - Shaylee’s Story
4:04
Sanofi - Living with Pompe disease - Juan
4:51