Enzimi Flashcards

1
Q

Galattosio 1 fosfato uridil transferasi

A

GALT

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2
Q

Galattochinasi

A

Galk

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3
Q

Epimerasi

A

Gale

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4
Q

Galattosio mutarotasi

A

Galm

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5
Q

Glucosio 6 fosfato fosfatasi

A

GSD1a

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6
Q

Glucosio 6 fosfato trasportatore

A

GSD1b

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7
Q

Alfa glucosidasi acida

A

Pompe-glicogenosi tipo 2

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8
Q

Alfa iduronidasi

A

MPS1 hurler e scheie

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9
Q

Iduronato2 solfatasi

A

MPS2 hunter

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10
Q

Beta glucosidasi

A

Glicosfingolipidosi Gaucher

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11
Q

Fenilalanina idrossilasi

A

Pku

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12
Q

Perossine

A

ZS

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13
Q

ALDP (gene ABCD1)

A

Adreno leuco distrofia x-linked

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