This video will cover the basics of the lysosomal storage diseases!
Пікірлер: 22
@kattadthil9 жыл бұрын
i remember this way Fabulous H unters are M ales so Fabrys and Hunters are x linked reccessive
@Arlothed1no4 жыл бұрын
Erlenmeyer flask. Thank you for this video. This is what my research paper is about
@ScienceAnswers10111 жыл бұрын
Correct - different variants to Niemann-pick disease... A is technically the classical presentation of the disease, which does involve sphingomyelinase. Class C, which is the majority, isn't caused the enzyme deficiency/mutation, but rather due to the gene product (NPC1) messing up transport, just like you said. Thanks for the clarification!
@Bilbo94011 жыл бұрын
Niemann-Pick is usually NOT caused by mutation of sphingomyelinase, rather it's in NPC1, a lipid transporter, in around 95% of cases...
@deberahoffman24369 жыл бұрын
My sons have Alpha-Mannosidosis. They originally looked for Tay Sachs and then Niemann-Pics. Upon further testing, they narrowed it down to muncopolysycharridosis and upon further testing narrowed it down to Alpha-Mannosidosis.
@TheHarrisjm9 жыл бұрын
The disease with the highest carrier frequency in the AJ population is Gaucher which is 1/15
@arashafshar11067 жыл бұрын
In Gaucher's disease, crumpled/wrinkled tissue paper appearance is for the MACROPHAGES not lysosomes (AKA Gaucher cells). The onion skin appearance in Tay-Sachs however is in the lysosomes.
@michaelpichardo47436 жыл бұрын
Which the macrofages have their lysosomes full which give them those characteristics.
@elizabethalexander639910 жыл бұрын
For a female with Fabry disease, it is not nice to hear that Fabry is no that important. I think you want to say that it probably won't be on the test but it took me 67 years to be diagnosed and I have serious symptoms. Please include the corneal & heart presentations for Fabry.
@zekhong8 жыл бұрын
good Video.Very helpful.
@lisav87978 жыл бұрын
Erlenmeyer flask, bro.
@realblackbetty22047 жыл бұрын
Awesome. My fav
@krishanthalagahage60249 жыл бұрын
thanx a lot
@tanushreegaur62456 жыл бұрын
Why did you stop making them videos? They're nice. 😳
@ravenwyld6 жыл бұрын
My brain scans look like a spider spun a web in my white matter. Not sure which of the 50 types I have yet. Much testing
@Byranthony15 жыл бұрын
Why is fabry not important
@fly_on_a_wall58299 жыл бұрын
Are the specific chromosome # mutation high yield?
@afrahmajeed79437 жыл бұрын
good vido thank
@GTJosh648 жыл бұрын
Not to be a troll but I think it's GLOBOID as in shaped like a globe.
@DirtyMedicine8 жыл бұрын
it is GLOBOID, as you said
@kakashibnl79848 жыл бұрын
Tyvm :)
@glendeloid92108 жыл бұрын
So half an hour to hear your painstaking dictation of what anyone can read in a table in 10 minutes. Just do your studying and move on. can't believe I wasted a minute looking at this.