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Review

Neuronal Ceroid Lipofuscinoses Overview

Kristina Malik  1 , Kourtney Santucci  1 , Leighann Sremba  2 , Maija Steenari  3 , Andrea Miele  4 , Scott Demarest  5 , Ineka Whiteman  6   7   8
Margaret P Adam, Sarah Bick, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
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Free Books & Documents
Review

Neuronal Ceroid Lipofuscinoses Overview

Kristina Malik et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Briefly describe the clinical characteristics of neuronal ceroid lipofuscinoses;

  2. 2

    Review the genetic causes of neuronal ceroid lipofuscinoses;

  3. 3

    Provide an evaluation strategy to identify the genetic cause of a neuronal ceroid lipofuscinosis in a proband;

  4. 4

    Review management of neuronal ceroid lipofuscinoses;

  5. 5

    Inform genetic counseling of family members of an individual with a neuronal ceroid lipofuscinosis.

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References

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