RECURRENT THROMBO-EMBOLISM IN A CHILD WITH A CONGENITAL DISORDER OF GLYCOSYLATION (CDG) TYPE IB AND TREATMENT WITH MANNOSE
Author:
Publisher
Informa UK Limited
Subject
Oncology,Hematology,Pediatrics, Perinatology and Child Health
Link
http://www.tandfonline.com/doi/pdf/10.1080/08880010802394616
Reference16 articles.
1. Thromboembolism in Newborns, Infants and Children
2. Altered glycan structures: the molecular basis of congenital disorders of glycosylation
3. Congenital Disorders of Glycosylation: A Rapidly Expanding Disease Family
4. Congenital Disorders of Glycosylation: A Review
5. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.
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1. Mannose phosphate isomerase gene mutation leads to a congenital disorder of glycosylation: A rare case report and literature review;Frontiers in Pediatrics;2023-04-12
2. N-Glycosylation Deficiency Reduces the Activation of Protein C and Disrupts Endothelial Barrier Integrity;Thrombosis and Haemostasis;2022-06-19
3. Diarrhoea, Hypoalbuminaemia, Hepatomegaly, Hypoglycaemia and Coagulopathy? Check for MPI-CDG!;Педиатрия. Восточная Европа;2021-03-03
4. Congenital disorders of glycosylation: Still “hot” in 2020;Biochimica et Biophysica Acta (BBA) - General Subjects;2021-01
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