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PED - Ortopedia > Mucopolissacaridoses > Flashcards

Mucopolissacaridoses Flashcards

1
Q

Diagnóstico e definição

A

Deficiências de enzimas lisossomais -> acúmulo de glicosaminoglicanos

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2
Q

Tipos

A
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3
Q

Tipo 1

A

a-l-iduronidase e Dermatan

Retardo mental

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4
Q

Tipo 2

A

Iduronato-2-sulfatase

Heparan

  • Retardo mental mais tardio
  • Surdez 50%
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5
Q

Tipo 3

A
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6
Q

Tipo 4

A

N-acetilgalactosamina-6-sulfato
sulfatase

Queratan

Inteligência normal

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7
Q

5 6 e 7

A
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PED - Ortopedia (18 decks)

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