Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages-Reference-Cited by-同舟云学术

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Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages

Published:2017-03 Issue:3 Volume:120 Page:180-189
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Mengel Eugen,Pineda Mercedes,Hendriksz Christian J.,Walterfang Mark,Torres Juan V.,Kolb Stefan A.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference17 articles.

1. Linkage of Niemann-Pick disease type C to human chromosome 18;Carstea;Proc. Natl. Acad. Sci. U. S. A.,1993

2. Identification of HE1 as the second gene of Niemann-Pick C disease;Naureckiene;Science,2000

3. Niemann-Pick disease type C;Vanier;Orphanet J. Rare Dis.,2010

4. Niemann-Pick Type C suspicion index tool: analyses by age and association of manifestations;Wraith;J. Inherit. Metab. Dis.,2014

5. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update;Patterson;Mol. Genet. Metab.,2012

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