Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1 or Jaeken syndrome) is the
prototype of a class of genetic multisystem disorders characterized by defective …

LEOPARD syndrome is an autosomal dominant disorder with multiple lentigines, congenital
cardiac abnormalities, ocular hypertelorism, and retardation of growth. Deafness and genital …

Protein glycosylation is a complex process that depends not only on the activities of several
enzymes and transporters but also on a subtle balance between vesicular Golgi trafficking …

The conserved oligomeric Golgi (COG) complex is a heterooctameric complex that regulates
intraGolgi trafficking and the integrity of the Golgi compartment in eukaryotic cells. Here, we …

Carbohydrate-deficient glycoprotein (CDG) syndromes are genetic diseases that are due to
defects in the glycosylation of glycoproteins (Jaeken et al. 1993, 1997b). With one exception …

The PMM2 gene, which is defective in CDG-Ia, was cloned three years ago [Matthijs et al.,
1997b]. Several publications list PMM2 mutations [Matthijs et al., 1997b, 1998; Kjaergaard et …

Carbohydrate-deficient–glycoprotein syndrome type 1 (CDG1; also known as" Jaeken
syndrome") is an autosomal recessive disorder characterized by defective glycosylation …

The fundamental importance of correct protein glycosylation is abundantly clear in a group
of diseases known as congenital disorders of glycosylation (CDGs). In these diseases, many …

Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient
glycoprotein syndromes, lead to diseases with variable clinical pictures. We report the …

CDG‐Ib is the “gastro‐intestinal” type of the congenital disorders of glycosylation (CDG) and
a potentially treatable disorder. It has been described in patients presenting with congenital …