期刊
ANNALS OF TRANSLATIONAL MEDICINE
卷 6, 期 24, 页码 -出版社
AME PUBL CO
DOI: 10.21037/atm.2018.10.45
关键词
Congenital disorders of glycosylation; carbohydrate deficient transferrin; carbohydrate deficient glycoprotein syndrome; PMM2-CDG; MPI-CDG; ALG6-CDG; N-linked glycosylation; O-linked glycosylation; lipid glycosylation defects; congenital disorders of glycosylation (CDG)
资金
- National Institutes of Health [T32GM007454]
Congenital disorders of glycosylation are a genetically and clinically heterogeneous group of > 130 diseases caused by defects in various steps along glycan modification pathways. The vast majority of these monogenic diseases are autosomal recessive and have multi-systemic manifestations, mainly growth failure, developmental delay, facial dysmorphisms, and variable coagulation and endocrine abnormalities. Carbohydrate deficient transferrin (CDT) and protein-linked glycan analysis with mass spectrometry can diagnose some subtypes of congenital disorders of glycosylation (CDG), while many currently rely on massively parallel genomic sequencing for diagnosis. Early detection is important, as a few of these disorders are treatable. Molecular and biochemical techniques continue to further our understanding of this rapidly expanding group of clinically and genetically diverse disorders.
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