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Biochem Pearls > Enzyme Deficiencies > Flashcards

Enzyme Deficiencies Flashcards

1
Q

SCID

A

Adenosine deaminase deficiency

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2
Q

Lesch-Nyhan

A

HGPRT deficiency

Hyperuricemia
Gout
Pissed off
Retardation
dysTonia
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3
Q

Bloom syndrome

A

Helicase deficiency

due to BLM gene mutation

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Biochem Pearls (3 decks)

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