Linnebank, M. and Lagler, F. and Muntau, A. C. and Röschinger, W. and Olgemöller, B. and Fowler, B. and Koch, H. G.. (2005) Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia : two novel cases. Journal of inherited metabolic disease, Vol. 28, no. 6. pp. 1167-1168.
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Official URL: http://edoc.unibas.ch/dok/A5253376
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Abstract
This study reports three novel mutations of the methionine adenosyltransferase (MAT) lA gene and confirms that hyperhomocysteinaemia may be a characteristic finding in MAT I/III deficiency. Thus, MAT I/III deficiency is important in the differential diagnoses of hyperhomocysteinaemia, which may lead to clinical complications of MAT I/III deficiency.
| Faculties and Departments: | 03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Ehemalige Einheiten Pädiatrie (UKBB) > Labor (Fowler) 03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Ehemalige Einheiten Pädiatrie (UKBB) > Labor (Fowler) |
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| UniBasel Contributors: | Fowler, Brian |
| Item Type: | Article, refereed |
| Article Subtype: | Book Review |
| Publisher: | Kluwer |
| ISSN: | 0141-8955 |
| Note: | Publication type according to Uni Basel Research Database: Journal item |
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| Identification Number: |
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| Last Modified: | 22 Mar 2012 14:24 |
| Deposited On: | 22 Mar 2012 13:39 |
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