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 …

Advances in research have boosted therapy development for congenital disorders of
glycosylation (CDG), a group of rare genetic disorders affecting protein and lipid …

Background and aim Congenital disorders of glycosylation (CDG) are a large
heterogeneous group of about 170 rare inherited metabolic disorders due to defective …

Background The pathogenic mechanism of dilated cardiomyopathy (DCM) remains to be
defined. This study aimed to identify hub genes and immune cells that could serve as …

Congenital disorders of glycosylation (CDG) are a group of mostly autosomal recessive
disorders primarily characterized by neurological abnormalities. Recently, we described a …

Abstract Background Congenital Disorders of Glycosylation (CDG) are genetic diseases
caused by hypoglycosylation of glycoproteins and glycolipids. Most CDG are multisystem …

Background Multiple osteochondromas is a dysplasia characterized by growth of two or
more osteochondromas. It is genetically heterogeneous, caused by pathogenic variants in …

Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-
glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal …

Only a limited number of genetic diseases are diagnosable in archaeological individuals
and none have had causal mutations identified in genome-wide screens. Two individuals …

There are many metabolic disorders that present with bone phenotypes. In some cases, the
pathological bone symptoms are the main features of the disease whereas in others they are …