Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: Long-term outcome and effects of mannose supplementation

Molecular Genetics and Metabolism

Volumn 73, Issue 1, 2001, Pages 77-85

  Westphal, Vibeke ^a   Kjaergaard, Susanne ^b   Davis, Joseph A ^a   Peterson, Sandra M ^a   Skovby, Flemming ^b   Freeze, Hudson H ^a  

^a BURNHAM INSTITUTE   (United States)

^b Rigshospitalet   (Denmark)

Author keywords

Carbohydrate deficiency; CDG; CDG Ib; Disorders; Phosphomannose isomerase; PMI

Indexed keywords

ANTITHROMBIN III; MANNOSE; MANNOSE PHOSPHATE ISOMERASE; TRANSFERRIN;

ADULT; AGE; ARTICLE; BIOPSY; CASE REPORT; CONGENITAL DISORDER; DIET SUPPLEMENTATION; DISEASE ASSOCIATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FOLLOW UP; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GLYCOSYLATION; HUMAN; ISOELECTRIC FOCUSING; LIVER FIBROSIS; LONG TERM CARE; MALE; METABOLISM; MISSENSE MUTATION; MORTALITY; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; PROTEIN LOSING GASTROENTEROPATHY; RECURRENT DISEASE; RISK FACTOR; STEADY STATE; TREATMENT OUTCOME; VEIN THROMBOSIS;

EID: 0035718934     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3161     Document Type: Article

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