N8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics
出版年份 2015 全文链接
标题
N8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics
作者
关键词
Spermine, Spermidine, Myoclonic Jerk, HFBA, Clinical Exome Sequencing
出版物
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 39, Issue 1, Pages 131-137
出版商
Springer Nature
发表日期
2015-07-14
DOI
10.1007/s10545-015-9876-y
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。- The function of spermine
- (2014) Anthony E. Pegg IUBMB LIFE
- Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype
- (2013) Angela Peron et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Metabolomics perspectives in pediatric research
- (2013) Sofia Moco et al. PEDIATRIC RESEARCH
- The natural polyamines spermidine and spermine prevent bone loss through preferential disruption of osteoclastic activation in ovariectomized mice
- (2012) Tomomi Yamamoto et al. BRITISH JOURNAL OF PHARMACOLOGY
- Metabolomics: the apogee of the omics trilogy
- (2012) Gary J. Patti et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- CAMERA: An Integrated Strategy for Compound Spectra Extraction and Annotation of Liquid Chromatography/Mass Spectrometry Data Sets
- (2011) Carsten Kuhl et al. ANALYTICAL CHEMISTRY
- Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry
- (2011) John Sowell et al. CLINICA CHIMICA ACTA
- New therapeutic targets to develop molecules active in drug-resistant epilepsies
- (2010) Mounia SidAhmed-Mezi et al. EPILEPSIA
- A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome
- (2009) L.E. Becerra-Solano et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Spermine synthase
- (2009) Anthony E. Pegg et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- Modulation of cellular function by polyamines
- (2009) Kazuei Igarashi et al. INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
- Mammalian polyamine metabolism and function
- (2009) Anthony E. Pegg IUBMB LIFE
- Predicting metabolic biomarkers of human inborn errors of metabolism
- (2009) Tomer Shlomi et al. Molecular Systems Biology
- The impact of spermine synthase (SMS) mutations on brain morphology
- (2009) Shelli R. Kesler et al. NEUROGENETICS
- Empirical Bayes analysis of single nucleotide polymorphisms
- (2008) Holger Schwender et al. BMC BIOINFORMATICS
- Highly sensitive feature detection for high resolution LC/MS
- (2008) Ralf Tautenhahn et al. BMC BIOINFORMATICS
- Spermine Synthase Deficiency Leads to Deafness and a Profound Sensitivity to α-Difluoromethylornithine
- (2008) Xiaojing Wang et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Endogenous polyamines regulate cortical neuronal excitability by blocking voltage-gated Na+ channels
- (2008) I. A. Fleidervish et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now