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Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia : two novel cases

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)
UniBasel Contributors:Fowler, Brian
Item Type:Article, refereed
Article Subtype:Book Review
Bibsysno:Link to catalogue
Publisher:Kluwer
ISSN:0141-8955
Note:Publication type according to Uni Basel Research Database: Journal item
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Last Modified:22 Mar 2012 14:24
Deposited On:22 Mar 2012 13:39

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