Adelaide Research & Scholarship
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https://hdl.handle.net/2440/32918
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| Type: | Journal article |
| Title: | Carbohydrate-deficient glycoprotein syndrome: Beyond the screen |
| Author: | Fletcher, J. Matthijs, G. Jaeken, J. Van Schaftingen, E. Nelson, P. |
| Citation: | Journal of Inherited Metabolic Disease, 2000; 23(4):396-398 |
| Publisher: | Kluwer Academic Publ |
| Issue Date: | 2000 |
| ISSN: | 0141-8955 1573-2665 |
| Statement of Responsibility: | J. M. Fletcher, G. Matthijs, J. Jaeken, E. Van Schaftingen and P. V. Nelson |
| Abstract: | We report two siblings with carbohydrate-deficient glycoprotein syndrome (CDG) type 1 (McKusick 212065) secondary to phosphomannomutase deficiency, both of whom have repeatedly normal transferrin isoform screening tests. |
| Keywords: | Cells, Cultured Fibroblasts Humans Phosphotransferases (Phosphomutases) Transferrin Isoelectric Focusing Child Infant Female beta-N-Acetylhexosaminidases Congenital Disorders of Glycosylation |
| DOI: | 10.1023/A:1005660004047 |
| Published version: | http://dx.doi.org/10.1023/a:1005660004047 |
| Appears in Collections: | Aurora harvest Paediatrics publications |
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