The couple described the child as having a cherry red

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Unformatted text preview: month old child. You notice the child has a cherry- red spot on their macula and a TEM reveals that the lysosomes have a onion- shell inclusions. Which disease is this child likely to have? a. Gaucher b. Fabry c. Hurler d. Tay- Sachs e. Niemann- Pick A couple comes into your office for genetic counseling. They are concerned about conceiving since they are second cousins and the woman’s niece recently pasted away at the age of 2. The couple described the child as having a cherry- red spot in the macula and foamy lysosomes, which they did not understand. Which substrate would have accumulated in this child? a. Herparan sulfate and dermatan sulfate b. ganglioside c. globoside d. glucosyl ceramide e. sphigomyelin 7. Lipoprotein lipase is a key enzyme in the metabolism of lipoproteins. Which of the following statements regarding lipoprotein lipa...
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This document was uploaded on 02/05/2014.

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