Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history-Reference-Cited by-同舟云学术

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Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history

Published:2019-04 Issue:4 Volume:126 Page:466-469
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Bianconi Simona E.,Hammond Dylan I.,Farhat Nicole Y.,Dang Do An,Jenkins Kisha,Cougnoux Antony,Martin Kyle,Porter Forbes D.

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Publisher

Elsevier BV

Subject

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

Reference17 articles.

1. Niemann-pick disease type C;Vanier;Clin. Genet.,2003

2. Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol;Kwon;Cell,2009

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

4. High incidence of unrecognized visceral/neurological late-onset Niemann-pick disease, type C1, predicted by analysis of massively parallel sequencing data sets;Wassif;Genet. Med.,2016

5. NPC-db, a Niemann-Pick type C disease gene variation database;Runz;Hum. Mutat.,2008

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1. Npc1 deficiency impairs microglia function via TREM2-mTOR signaling in Niemann-Pick disease type C;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-12

2. Intracerebroventricular 2-hydroxypropyl-γ-cyclodextrin alleviates hepatic manifestations without distributing to the liver in a murine model of Niemann–Pick disease type C;Life Sciences;2024-08

3. Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches;Cell Biochemistry and Function;2024-05-07

4. Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1;Molecular Genetics and Metabolism;2023-11

5. Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine;npj Genomic Medicine;2023-08-11

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