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CMP > Fabry > Flashcards

Fabry Flashcards

1
Q

3 examens (outre imagerie) pour Dx de Mx de Fabry

A

Dosage activité alpha-galactosidase A sérique
Tests génétiques (mutation gène GAL)
Bx

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2
Q

3 syndromes d’atteinte du storage du glycogène outre Fabry

A

Mx de Gaucher (pattern restrictif)
Mx de Hurler (pattern restrictif)
Mx de Danon (pattern CMPH)

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CMP (13 decks)

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