enfermedades Flashcards

- de almacenamiento lisosomal - dineinas

1
Q

gaucher almacena

A

herencia autosomica rescesiva
almacenamiento de glucocerebros

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2
Q

enzima dañada en gaucher

A

glucocerebrosidadsa,

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3
Q

FABRY enzima dañada

A

lisosomal a-galactosidasa A

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4
Q

FABRY que se acumula

A

globotriasilceramida
glucolipidos

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5
Q

que acumula tay sach

A

GANGLIOS GM2

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6
Q

ENZIMA DAÑADA EN TAY SACH

A

B- hexosaminidasa A

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7
Q

enzim niemman pick

A

esfingomielina acida

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8
Q

que acumula niemman pick

A

esfingomielina

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9
Q

hurler enzima

A

alfa L iduronidasa

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10
Q

que se acumula en hurler

A

glucosaaminoglucanasa
dermatan suldato y heparan sulfato

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11
Q

hunter enzima

A

iduronato-2-sulfatasa

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12
Q

que acumula

A

glucosaaminoglucanos
mucopolisacaridos

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13
Q

enzima krabble

A

galactosilceramidasa

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14
Q

almacena krabble

A

gactosilceramisada o pxosina

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15
Q

sindrome de kartagener

A

mutacion de dineinas
b, anomalias en lso cilios y flagelos

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16
Q

SINDROME SILVESTRINI CORDA

A
17
Q

progeroa

A

lam a de la lamina nuclear