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
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.
Awesome. My fav
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!
The disease with the highest carrier frequency in the AJ population is Gaucher which is 1/15
good Video.Very helpful.
thanx a lot
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.
Niemann-Pick is usually NOT caused by mutation of sphingomyelinase, rather it's in NPC1, a lipid transporter, in around 95% of cases...
Erlenmeyer flask, bro.
good vido thank
Are the specific chromosome # mutation high yield?
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
Tyvm :)
Why is fabry not important
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.