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The prenatal diagnosis of congenital disorders of glycosylation (CDG).
Primary tabs
| Document type | Article de périodique (Journal article) – Journal Article, Research Support, Non-U.S. Gov't, Review |
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| Access type | Accès restreint |
| Publication date | 2004 |
| Journal information | "Prenatal diagnosis" - Vol. 24, no. 2, p. 114-6 (2004) |
| Peer reviewed | yes |
| issn | 0197-3851 |
| Publication status | Publié |
| Affiliation | UCL - MD/BICL - Département de biochimie et de biologie cellulaire |
| MESH Subject | Carbohydrate Metabolism, Inborn Errors - diagnosis - etiology - genetics ; Glucosyltransferases - deficiency - genetics ; Glycoproteins - metabolism ; Glycosylation ; Humans ; Mannose-6-Phosphate Isomerase - deficiency - genetics ; Membrane Proteins - deficiency - genetics ; Mutation ; Phosphotransferases (Phosphomutases) - deficiency - genetics ; Prenatal Diagnosis |
| Links |
| Bibliographic reference | Matthijs, Gert ; Schollen, Els ; Van Schaftingen, Emile. The prenatal diagnosis of congenital disorders of glycosylation (CDG).. In: Prenatal diagnosis, Vol. 24, no. 2, p. 114-6 (2004) |
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| Permanent URL | http://hdl.handle.net/2078.1/25874 |