Almost all types of congenital disorders of glycosylation CDG present in infancy. Because of the important biologic functions of the oligosaccharides in both glycoproteins and glycolipids incorrect synthesis of these compounds results in broad multisystem clinical manifestations that may include one or more of the following.
Common Clinical Manifestations In Congenital Disorders Of Glycosylation Download Table
33 A condition that bears some resemblance to WWS known as muscle-eye-brain disease is caused by mutations in the gene for the protein O-mannose β-12-N-acetylglucosaminyltransferase.
What are the symptoms of congenital disorder of glycosylation. The disorder is associated with abnormal glycosylation of α-dystroglycan Fig. 1 disrupting the linkage of the cell membrane to the ECM in brain and muscle.
Congenital Disorder Of Glycosylation Type Iq Hereditary Ocular Diseases
Congenital Disorder Of Glycosylation An Overview Sciencedirect Topics
Pmm2 Congenital Disorder Of Glycosylation Genebase
Perspectives On Glycosylation And Its Congenital Disorders Trends In Genetics
Slc35a2 Related Congenital Disorder Of Glycosylation Defining The Phenotype European Journal Of Paediatric Neurology
Congenital Disorders Of Glycosylation Abstract Europe Pmc
Reported Cases Of Congenital Disorders Of Glycosylation Type Ij Download Table
Congenital Disorders Of Glycosylation Abstract Europe Pmc
Cdg Facts Apcdg Congenital Disorders Of Glycosylation
