sphingolipidoses

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Last updated 7:34 PM on 9/5/25
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15 Terms

1
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Enzyme déficiente maladie de gaucher

Bêta glucosidase

2
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Accumulation (maladie de gaucher)

Glucosylcéramide

3
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Troubles maladie de gaucher

Hépatique

Splénique (rate)

Neurologique (retard mental)

4
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Enzyme déficiente maladie de krabbe

Bêta galactosidase

5
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Accumulation (maladie de krabbe)

Galactosylcéramide

6
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Trouble maladie de krabbe

Neurologique

7
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Enzyme déficiente maladie de Fabry

Alpha galactosidase

8
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Accumulation maladie de fabry

Trihexosidecéramide

9
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Troubles maladie de fabry

Cardio vasculaire

Cutanés

Insuffisance rénale

10
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Enzyme déficiente maladie de taysachs

Bêta hexosaminidase

11
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Accumulation maladie de taysachs

GM2

12
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Troubles maladie de taysachs

Maladie neurodégénérative

Retard psychomoteur

13
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14
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15
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