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BIOMO 5to parcial > Chino Resumen > Flashcards

Chino Resumen Flashcards

1
Q

Esta ausente la hexosaminidasa beta A la cual metabolizes los gangliosidos GM2

A

Tay Sachs

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2
Q

Ausente hexosaminidasa beta A y B

A

Sandhoff

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3
Q

Enfermedad de Fabry

A

Ligada al x
Ausente galactocidasa alfa A
acumulación de globotriaosilceramida
Parestesias

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4
Q

Enfermedad de gaucher

A

Falta de glucocidasa beta ácida

Se acumula glucosilceramida

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5
Q

Acumulación de esfingomielina

A

Enfermedad de niemann pick

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6
Q

Mucolipidosis 2

A

Fosfotramsferasa 1 de UDP NAG

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7
Q

Ausencia de galactosilceraminidasa

A

Krabbe

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8
Q

Ausencia de glucocidasa Alfa ácida

A

Pompe

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9
Q

Farber

A

Ceraminidasa ácida

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10
Q

Donde se originan las enfermedades de atesoramiento lisosomal

A

Fusión de vesículas trans golgi TGN

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11
Q

Todas son autonómicos recessives

A

Verdadero

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12
Q

Mancha retiniana roja

A

Tay Sachs

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13
Q

Ángioqueratomas y telangiectasias

A

Fábry

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14
Q

Gaucher tipo 1

A

Trastorno no neuropatico
Infiltración en la médula ósea por macrofagos cargados de glucolipidos
Taponamiento medular e infarto

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15
Q

Enfermedad de niemann pick tipo a

A

Durante los primeros meses de vida deterioro neurologico progresivo espacticidad

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16
Q

Mucopolisacaridosis tipo I

A

Trastorno autonómico recesivo

A iduronidasa

17
Q

Enfermedad de hurler

A

Mucopolisacaridosis deficiencia grave en la neuro degeneración

18
Q

Única enfermedad por almacenamiento lisosomico de glucógeno

A

Pompe

BIOMO 5to parcial (2 decks)

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