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

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!

Niemann-Pick is usually NOT caused by mutation of sphingomyelinase, rather it's in NPC1, a lipid transporter, in around 95% of cases...

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.

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.

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.

good Video.Very helpful.

Erlenmeyer flask, bro.

Awesome. My fav

thanx a lot

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

Are the specific chromosome # mutation high yield?

good vido thank

Not to be a troll but I think it's GLOBOID as in shaped like a globe.

Tyvm :)

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.