Maladie Flashcards

1
Q

Krabbe

A

Substance accumulée :
Galactosylcéramide

Déficit enzymatique :
Galactosylcéramidase

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2
Q

Gaucher

A

Substance accumulée :
Glucosylcéramide

Déficit enzymatique :
Glucosylcéramidase

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3
Q

Niemann-Pick

A

Substance accumulée :
Sphingomyéline

Déficit enzymatique :
Sphingomyélinase

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4
Q

Farber

A

Substance accumulée :
Céramide

Déficit enzymatique :
Céramidase

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