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Flashcards in Enzyme Deficiencies Deck (3)
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1
Q

SCID

A

Adenosine deaminase deficiency

2
Q

Lesch-Nyhan

A

HGPRT deficiency

Hyperuricemia
Gout
Pissed off
Retardation
dysTonia
3
Q

Bloom syndrome

A

Helicase deficiency

due to BLM gene mutation