Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases. With a clinical history that dates back over 40 years, it was the recent multi-omics advances that mainly contributed to the fast-paced and encouraging developments in the field. However,...
Congenital disorders of glycosylation (CDG) comprise a rapidly growing group of autosomal recessive inherited diseases that affect the biosynthesis of glycoproteins and present with multiorgan involvement, which are mostly accompanied by neurologic symptoms. The transfer of oligosaccharides onto newly ...
Congenital disorders of glycosylation: have you encountered them? Genet Med 2000 Nov–Dec; 2(6): 329–37Westphal V, Srikrishna G, Freeze HH (2000) Congenital disorders of glycosylation: have you encountered them? Genet Med 2:329–337
patents Open Access Maria Monticelli1,2, Tania D'Onofrio1,2, Jaak Jaeken3, Eva Morava4, Giuseppina Andreotti2* and Maria Vittoria Cubellis1,2,5 Abstract Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Si...
Congenital (genetic) disorders of glycosylation (CDG) are a rapidly growing disease family, with some 45 members reported since its first clinical description in 1980. Most of these are protein hypoglycosylation diseases, but recently three defects in lipid glycosylation have been identified. Most pro...
Glycosylation; CDG-Ia; PMM2; Mutation; Recombination Summary Congenital Disorders of Glycosylation (CDG) are a group of recessive genetic disorders characterized by hypoglycosylation of glycoproteins. CDG-Ia, the most common type, is caused by mutations in the PMM2 gene, coding for a phosphomanno...
Congenital disorders of glycosylation type I (CDG-I) are inherited human diseases caused by deficiencies in lipid-linked oligosaccharide (LLO) synthesis or... GL Gallo,A Valko,NH Aguilar,... - 《Journal of Cell Science》 被引量: 0发表: 2022年 Congenital Disorders of Glycosylation: A Review ...
Congenital disorders of glycosylation (CDGs) are group group of genetic defects in the assembly and processing pathway of protein glycosylation, which cause a wide range of multi system dysfunction. This paper describes the anesthetic management of 6 years old boy with CDG type I-x for upper ...
The large majority of patients have a multi-system disorder with the CNS, often the main site of clinical involvement. The CDGs have been subdivided into disorders of N- and of O-glycosylation. Diseases due to defects in mannose-␣-O- glycosylation are not the subject of this review. In...
Congenital disorders of glycosylation (CDG) have grown enormously since the discovery of the first protein glycosylation defect in 1980, presenting with a broad clinical spectrum. Expansion in number and complexity of the CDG group has even necessitated a new nomenclature. By 2011, the CDG group in...