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.
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!
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.
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.
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.
i remember this way Fabulous H unters are M ales
so Fabrys and Hunters are x linked reccessive
Erlenmeyer flask. Thank you for this video. This is what my research paper is about
Awesome. My fav
good Video.Very helpful.
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.
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!
thanx a lot
The disease with the highest carrier frequency in the AJ population is Gaucher which is 1/15
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.
Which the macrofages have their lysosomes full which give them those characteristics.
Erlenmeyer flask, bro.
Niemann-Pick is usually NOT caused by mutation of sphingomyelinase, rather it's in NPC1, a lipid transporter, in around 95% of cases...
Are the specific chromosome # mutation high yield?
good vido thank
Why did you stop making them videos? They're nice. 😳
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
Why is fabry not important
Tyvm :)
Not to be a troll but I think it's GLOBOID as in shaped like a globe.
it is GLOBOID, as you said
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.
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.