The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation
出版年份 2011 全文链接
标题
The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation
作者
关键词
-
出版物
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 34, Issue 4, Pages 891-899
出版商
Springer Nature
发表日期
2011-03-08
DOI
10.1007/s10545-011-9306-8
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。- SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
- (2010) Vincent Cantagrel et al. CELL
- Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation
- (2010) J. Lubbehusen et al. HUMAN MOLECULAR GENETICS
- Fragmentation of negative ions from N-linked carbohydrates, Part 4. Fragmentation of complex glycans lacking substitution on the 6-antenna
- (2010) David J. Harvey et al. JOURNAL OF MASS SPECTROMETRY
- Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies
- (2009) Dirk J. Lefeber et al. AMERICAN JOURNAL OF HUMAN GENETICS
- CDG nomenclature: Time for a change!
- (2009) Jaak Jaeken et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- A new mutation in COG7 extends the spectrum of COG subunit deficiencies
- (2009) Renate Zeevaert et al. European Journal of Medical Genetics
- Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation
- (2009) P. Paesold-Burda et al. HUMAN MOLECULAR GENETICS
- Golgi function and dysfunction in the first COG4-deficient CDG type II patient
- (2009) Ellen Reynders et al. HUMAN MOLECULAR GENETICS
- Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia
- (2008) Rita Barone et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Ion Mobility Mass Spectrometry Analysis of Human Glycourinome
- (2008) Sergey Y. Vakhrushev et al. ANALYTICAL CHEMISTRY
- Glycosylation diseases: Quo vadis?
- (2008) Harry Schachter et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- COG defects, birth and rise!
- (2008) François Foulquier BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Characterizing the glycome of the mammalian immune system
- (2008) Stuart M Haslam et al. IMMUNOLOGY AND CELL BIOLOGY
- Mass spectrometry in the characterization of human genetic N-glycosylation defects
- (2008) Rita Barone et al. MASS SPECTROMETRY REVIEWS
- Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS
- (2008) Luisa Sturiale et al. PROTEOMICS
- Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation
- (2007) Renate Zeevaert et al. MOLECULAR GENETICS AND METABOLISM
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