CDG-1a is an early-onset neurodegenerative disease with selective hindbrain involvement
and highly variable clinical presentation. We retrospectively reviewed the clinical records …

Objective Congenital disorders of glycosylation (CDG), formerly called carbohydrate-
deficient glycoprotein syndromes, constitute a newly identified group of multisystem …

Congenital disorders of glycosylation (CDG) represent a newly delineated group of inherited
multisystem disorders characterized by defective glycoprotein biosynthesis. In the present …

The congenital disorders of glycosylation (CDG) constitute a new group of recessively
inherited metabolic disorders that are characterized biochemically by defective glycosylation …

A boy with an unspecific symptomatology consisting of mental retardation, strabismus,
hypotonia and mild ataxia was diagnosed with a congenital disorder of glycosylation (CDG) …

We report three children, all younger than 2 years of age, presenting with cerebellar atrophy
related to carbohydrate-deficient glycoprotein syndrome type 1, an autosomal recessive …

Aim Epilepsy is commonly observed in congenital disorders of glycosylation (CDG), but no
distinctive electroclinical pattern has been recognized. We aimed at identifying a …

AIMS To delineate common and variable features and outcome of children with congenital
disorder of glycosylation type Ia (CDG-Ia) caused by the frequent R141H/F119L PMM2 …

Congenital disorders of glycosylation (CDG) are genetic diseases due to defective
glycosylation of proteins and lipids. The authors present an update on these disorders …

Cerebellar ataxia can have many genetic causes among which are the congenital disorders
of glycosylation type I (CDG-I). In this group of disorders, a multisystem phenotype is …