Carbohydrate-deficient glycoprotein syndrome 1b: A new answer to an old diagnostic dilemma

Journal of Paediatrics and Child Health

Volumn 37, Issue 5, 2001, Pages 510-512

  Kelly, D F ^a   Boneh, A ^a   Pitsch, S ^a   Gold, H ^a   Fietz, M ^b   Nelson, P ^b   Oliver, M R ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

Carbohydrate deficient glycoprotein syndrome type 1b; Mannose; Phosphomannoseisomerase

Indexed keywords

ACICLOVIR; AMINOTRANSFERASE; CARBOHYDRATE; GLYCOPROTEIN; KETOCONAZOLE; MANNOSE PHOSPHATE ISOMERASE; PROTON PUMP INHIBITOR; TINIDAZOLE;

ADOLESCENT; ARTICLE; BACTERIAL INFECTION; CANDIDIASIS; CARBOHYDRATE DEFICIENT GLYCOPROTEIN SYNDROME 1B; CASE REPORT; CHILD; CHOLANGITIS; CONGENITAL DISORDER OF GLYCOSYLATION; DIARRHEA; DUODENUM ULCER; ESOPHAGITIS; ESOPHAGUS ULCER; FAILURE TO THRIVE; FECES ANALYSIS; GIARDIASIS; GRAM NEGATIVE INFECTION; HELICOBACTER PYLORI; HEPATOMEGALY; HERPES SIMPLEX ENCEPHALITIS; HUMAN; INFANT; LIVER BIOPSY; LIVER FIBROSIS; MALE; PRIORITY JOURNAL; PROTEIN LOSING GASTROENTEROPATHY;

ADOLESCENT; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; DIAGNOSIS, DIFFERENTIAL; HUMANS; INFANT; MALE; MANNOSE; MANNOSE-6-PHOSPHATE ISOMERASE; TREATMENT OUTCOME;

EID: 0034778866     PISSN: 10344810     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1754.2001.00671.x     Document Type: Article

References (10)

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8. Hyperinsulinaemic hypoglycaemia as presenting symptom in phosphomannoseisomerase deficiency: A new presentation of carbohydrate-deficient glycoprotein syndrome treatable by mannose
9. Carbohydrate deficient glycoprotein syndrome: Report of 23 patients
10. The role of glycosylation in autoimmune disease