Niemann-Pick disease Type C - causes, symptoms, diagnosis, treatment, pathology
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- Опубликовано: 24 дек 2019
- What is Niemann-Pick disease type C? Niemann-Pick disease type C, or NPC, is a rare genetically inherited condition caused by mutations in either the NPC1 or NPC2 genes. These mutations impair intracellular transport of cholesterol and other molecules, which causes progressive neurologic and developmental problems.
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I've been a subscriber for a while. Glad to see a video on this disease which few know about. Good job! A video on types A and B, along with info/comparison on progression and life expectancy would be good too.
Excellent video!! My son died of NP-C in 2006, and at the time there was limited information and no treatments were provided. It's a terrible disease!!
Sorry for your loss, Isabella. 🙏🏼
What age was he?
Great explanation, as always!
thank you for providing valuable content, I - and many others - are extremely grateful for your hard work
Brilliant presentation... thank you.
So much beautifull videos of information... ¿And the treathment?
Good job
this video is amazing
Great video and explanation. Hope you can have a video about "Pleural Effusion" because I know someone who's suffering from that. Hope you provide do's and don't.
God bless!
Cyclodextrin is said to be used present, anyone know how far is it useful in NPD?
hi i have the npc1ve been taking miglustat eion for about 1.5 months now, it helped me but still not quite
Thanks ❤❤❤❤
An off topic question: Na+K+ Pump works in depolarisation or repolarization? Anyone can answer please
Both
more Na inside the cell depolarization, more K causes repolarization even both are positive, K helps in repolarization as its RMP is -80 something like that
Great
My niece is suffering from NP, he is 10 months. What is the recommendation for his diet?
maybe reduced intake of cholesterol??
Which enzyme is involved in npd c?
No enzyme but the NPC1 or 2 transporters.
My son is 2year old his nieman pick deseas type c1 his spleen large
Hello please contact me and give me some information about your children and Nima pick tipo c ,same problem my child
@@funnyfunny8748 checkout IntraBio they have a drug called ib1000 in testing with very impressive data
Hi How is your son now
How is he now
it caught my eye , (silent whispers) very sorry
40,i'm just hoping with np-c