In a routine company health check-up, a 32-year-old woman presented a highly elevated serum level of carbohydrate-deficient transferrin (CDT), a biomarker for excessive alcohol consumption. The test result (~17% disialotransferrin, reference interval <2.0%; ~3% asialotransferrin, reference 0%) was confirmed by analysis of a second sample, while another alcohol biomarker, phosphatidylethanol (PEth) in whole-blood, was negative. This suggested that her elevated CDT may be unrelated to heavy drinking. The abnormal "type-1" transferrin glycoform pattern indicated a defect in N-glycan assembly occurring in congenital disorders of glycosylation (CDG), a family of rare inherited metabolic disorders. Probing for the underlying enzyme defect(s) usin...
Cerebellar ataxia can have many genetic causes among which are the congenital disorders of glycosyla...
SummaryCarbohydrate-deficient–glycoprotein syndrome type 1 (CDG1; also known as “Jaeken syndrome”) i...
Hepatopathy is the most common feature in the Congenital Disorders of Glycosylation (CDG). More than...
AbstractCarbohydrate deficient glycoprotein syndromes (CDGS) are inherited disorders in glycosylatio...
We report two siblings with carbohydrate-deficient glycoprotein syndrome (CDG) type 1 (McKusick 2120...
The carbohydrate-deficient glycoprotein or CDG syndromes (OMIM 212065) are a recently delineated gro...
AbstractThe carbohydrate-deficient glycoprotein or CDG syndromes (OMIM 212065) are a recently deline...
CDG-Ib is the "gastro intestinal'' type of the congenital disorders of glycosylation (CDG) and a pot...
AbstractCarbohydrate-deficient glycoprotein (CDG) syndromes are genetic multisystemic disorders char...
ABSTRACT: Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic ...
Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an au...
Background Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by ...
Carbohydrate deficient glycoprotein syndromes (CDG) are inherited multisystem disorders characterize...
Contains fulltext : 53097.pdf (publisher's version ) (Closed access)Cerebellar ata...
AbstractCongenital disorders of glycosylation are a clinically and genetically heterogeneous group o...
Cerebellar ataxia can have many genetic causes among which are the congenital disorders of glycosyla...
SummaryCarbohydrate-deficient–glycoprotein syndrome type 1 (CDG1; also known as “Jaeken syndrome”) i...
Hepatopathy is the most common feature in the Congenital Disorders of Glycosylation (CDG). More than...
AbstractCarbohydrate deficient glycoprotein syndromes (CDGS) are inherited disorders in glycosylatio...
We report two siblings with carbohydrate-deficient glycoprotein syndrome (CDG) type 1 (McKusick 2120...
The carbohydrate-deficient glycoprotein or CDG syndromes (OMIM 212065) are a recently delineated gro...
AbstractThe carbohydrate-deficient glycoprotein or CDG syndromes (OMIM 212065) are a recently deline...
CDG-Ib is the "gastro intestinal'' type of the congenital disorders of glycosylation (CDG) and a pot...
AbstractCarbohydrate-deficient glycoprotein (CDG) syndromes are genetic multisystemic disorders char...
ABSTRACT: Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic ...
Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an au...
Background Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by ...
Carbohydrate deficient glycoprotein syndromes (CDG) are inherited multisystem disorders characterize...
Contains fulltext : 53097.pdf (publisher's version ) (Closed access)Cerebellar ata...
AbstractCongenital disorders of glycosylation are a clinically and genetically heterogeneous group o...
Cerebellar ataxia can have many genetic causes among which are the congenital disorders of glycosyla...
SummaryCarbohydrate-deficient–glycoprotein syndrome type 1 (CDG1; also known as “Jaeken syndrome”) i...
Hepatopathy is the most common feature in the Congenital Disorders of Glycosylation (CDG). More than...