MAN1B1-CDG: Three new individuals and associated biochemical profiles
Published 2021 View Full Article
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Title
MAN1B1-CDG: Three new individuals and associated biochemical profiles
Authors
Keywords
CDG, Hypersialorrhea, Intellectual disability, MAN1B1, N-glycan mass spectrometry
Journal
Molecular Genetics and Metabolism Reports
Volume 28, Issue -, Pages 100775
Publisher
Elsevier BV
Online
2021-06-02
DOI
10.1016/j.ymgmr.2021.100775
References
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Related references
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- Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation
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- Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test
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- High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation
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- Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
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- MAN1B1 Deficiency: An Unexpected CDG-II
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- Reconstructed glycan profile for evaluation of operating status of the endoplasmic reticulum glycoprotein quality control
- (2012) S. Iwamoto et al. GLYCOBIOLOGY
- A new Capillary Zone Electrophoresis method for the screening of Congenital Disorders of Glycosylation (CDG)
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- GlycoWorkbench: A Tool for the Computer-Assisted Annotation of Mass Spectra of Glycans†
- (2008) Alessio Ceroni et al. JOURNAL OF PROTEOME RESEARCH
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