Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker
出版年份 2014 全文链接
标题
Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker
作者
关键词
-
出版物
JOURNAL OF CLINICAL INVESTIGATION
Volume 124, Issue 3, Pages 1320-1328
出版商
American Society for Clinical Investigation
发表日期
2014-02-02
DOI
10.1172/jci72835
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C
- (2012) Y. H. Chien et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Miglustat Improves Purkinje Cell Survival and Alters Microglial Phenotype in Feline Niemann-Pick Disease Type C
- (2012) Veronika M. Stein et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update
- (2012) Marc C. Patterson et al. MOLECULAR GENETICS AND METABOLISM
- Early Miglustat Therapy in Infantile Niemann-Pick Disease Type C
- (2012) Maja Di Rocco et al. PEDIATRIC NEUROLOGY
- A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma
- (2011) Xuntian Jiang et al. JOURNAL OF LIPID RESEARCH
- Maladie de Niemann-Pick type C : aspects historiques et actuels, diagnostic biochimique et génétique
- (2010) Marie T. Vanier ARCHIVES DE PEDIATRIE
- Storage problems in lysosomal diseases
- (2010) Jean Michel Heard et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor in Sandhoff disease mice
- (2010) Danielle te Vruchte et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Niemann-Pick disease type C
- (2010) Marie T Vanier Orphanet Journal of Rare Diseases
- Cyclodextrin Induces Calcium-Dependent Lysosomal Exocytosis
- (2010) Fannie W. Chen et al. PLoS One
- Niemann–Pick C2 (NPC2) and intracellular cholesterol trafficking
- (2009) Judith Storch et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
- Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C
- (2009) Marc C. Patterson et al. JOURNAL OF CHILD NEUROLOGY
- Recommendations on the diagnosis and management of Niemann-Pick disease type C
- (2009) James E. Wraith et al. MOLECULAR GENETICS AND METABOLISM
- Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression
- (2009) Cristin D. Davidson et al. PLoS One
- Using SiZer to detect thresholds in ecological data
- (2008) Derek L Sonderegger et al. FRONTIERS IN ECOLOGY AND THE ENVIRONMENT
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now