Add to ORKGGlucosidase I is an important enzyme in N-linked glycoprotein processing, removing specifically distal alpha-1,2linked glucose from the Glc3Man9GlcNAc2 precursor after its en bloc transfer from dolichyl diphosphate to a nascent polypeptide chain in the endoplasmic reticulum. We have identified a glucosidase I defect in a neonate with severe generalized hypotonia and dysmorphic features. The clinical course was progressive and was characterized by the occurrence of hepatomegaly, hypoventilation, feeding problems, seizures, and fatal outcome at age 74 d. The accumulation of the tetrasaccharide Glc(alpha1-2)Glc(alpha1-3)Glc(alpha1-3)Man in the patient's urine indicated a glycosylation disorder. Enzymological studies on liver tissue and culture...
This study describes the discovery of a new inherited disorder of glycosylation named “CDG-Ik. ” CDG...
We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal bra...
Glycosylation is a ubiquitous modification of lipids and proteins. Despite the essential contributio...
Glucosidase I is an important enzyme in N-linked glycoprotein processing, removing specifically dist...
Glucosidase I is an important enzyme in N-linked glycoprotein processing, removing specifically dist...
BackgroundCongenital disorders of glycosylation are genetic syndromes that result in impaired glycop...
Hansske B, Thiel C, Lübke T, et al. Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galacto...
Abstract BACKGROUND: Congenital disorders of glycosylation are genetic syndromes that result in im...
Congenital disorder of glycosylation type Id is an inherited glycosylation disorder based on a defec...
Congenital disorders of glycosylation (CDG) represent a newly delineated group of inherited multisys...
Deficiency of subunit 6 of the conserved oligomeric Golgi (COG6) complex causes a new combined N- an...
Almost 50 inborn errors of metabolism have been described due to congenital defects in N-linked glyc...
Defects of lipid-linked oligosaccharide assembly lead to alterations of N-linked glycosylation known...
We describe an ALG9 defective (Congenital Disorders of Glycosylation type IL) patient who is homozyg...
This study describes the discovery of a new inherited disorder of glycosylation named “CDG-Ik. ” CDG...
We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal bra...
Glycosylation is a ubiquitous modification of lipids and proteins. Despite the essential contributio...
Glucosidase I is an important enzyme in N-linked glycoprotein processing, removing specifically dist...
Glucosidase I is an important enzyme in N-linked glycoprotein processing, removing specifically dist...
BackgroundCongenital disorders of glycosylation are genetic syndromes that result in impaired glycop...
Hansske B, Thiel C, Lübke T, et al. Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galacto...
Abstract BACKGROUND: Congenital disorders of glycosylation are genetic syndromes that result in im...
Congenital disorder of glycosylation type Id is an inherited glycosylation disorder based on a defec...
Congenital disorders of glycosylation (CDG) represent a newly delineated group of inherited multisys...
Deficiency of subunit 6 of the conserved oligomeric Golgi (COG6) complex causes a new combined N- an...
Almost 50 inborn errors of metabolism have been described due to congenital defects in N-linked glyc...
Defects of lipid-linked oligosaccharide assembly lead to alterations of N-linked glycosylation known...
We describe an ALG9 defective (Congenital Disorders of Glycosylation type IL) patient who is homozyg...
This study describes the discovery of a new inherited disorder of glycosylation named “CDG-Ik. ” CDG...
We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal bra...
Glycosylation is a ubiquitous modification of lipids and proteins. Despite the essential contributio...