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Biochem > Sphingolipidoses > Flashcards

Sphingolipidoses Flashcards

1
Q

Ganglioside GM2 accumulation

B-Hexosaminidase A Deficiency

A

Tay-Sachs

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2
Q

Glucocerebroside accumulation

Glucocerebrosidase deficiency

A

Gaucher’s disease

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3
Q

Ceramide Trihexoside accumulation
a-Galactosidase A deficiency

**X-linked

A

Fabry disease

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4
Q

Sphingomyelin accumulation

Sphingomyelinase deficiency

A

Niemann-Pick Disease

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5
Q

Ceramide accumulation

Ceramidase deficiency

A

Farber Disease

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Biochem (29 decks)

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