Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options
About this item
Full title
Author / Creator
Staufner, Christian , Lindner, Martin , Dionisi-Vici, Carlo , Freisinger, Peter , Dobbelaere, Dries , Douillard, Claire , Makhseed, Nawal , Straub, Beate K. , Kahrizi, Kimia , Ballhausen, Diana , la Marca, Giancarlo , Kölker, Stefan , Haas, Dorothea , Hoffmann, Georg F. , Grünert, Sarah C. and Blom, Henk J.
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Springer Netherlands
Subjects
More information
Scope and Contents
Contents
Background
Adenosine kinase deficiency is a recently described defect affecting methionine metabolism with a severe clinical phenotype comprising mainly neurological and hepatic impairment and dysmorphism.
Methods
Clinical data of 11 additional patients from eight families with adenosine kinase deficiency were gathered through a retrospect...
Alternative Titles
Full title
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1765920424
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1765920424
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-015-9904-y
