Clinical presentation and outcome in a series of 88 patients with the cblC defect
Clinical presentation and outcome in a series of 88 patients with the cblC defect
About this item
Full title
Author / Creator
Fischer, Sabine , Huemer, Martina , Baumgartner, Matthias , Deodato, Federica , Ballhausen, Diana , Boneh, Avihu , Burlina, Alberto B. , Cerone, Roberto , Garcia, Paula , Gökçay, Gülden , Grünewald, Stephanie , Häberle, Johannes , Jaeken, Jaak , Ketteridge, David , Lindner, Martin , Mandel, Hanna , Martinelli, Diego , Martins, Esmeralda G. , Schwab, Karl O. , Gruenert, Sarah C. , Schwahn, Bernd C. , Sztriha, László , Tomaske, Maren , Trefz, Friedrich , Vilarinho, Laura , Rosenblatt, David S. , Fowler, Brian and Dionisi-Vici, Carlo
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Springer Netherlands
Subjects
More information
Scope and Contents
Contents
The cblC defect is the most common inborn error of vitamin B12 metabolism. Despite therapeutic measures, the long-term outcome is often unsatisfactory. This retrospective multicentre study evaluates clinical, biochemical and genetic findings in 88 cblC patients. The questionnaire designed for the study evaluates clinical and biochemical features at...
Alternative Titles
Full title
Clinical presentation and outcome in a series of 88 patients with the cblC defect
Authors, Artists and Contributors
Author / Creator
Huemer, Martina
Baumgartner, Matthias
Deodato, Federica
Ballhausen, Diana
Boneh, Avihu
Burlina, Alberto B.
Cerone, Roberto
Garcia, Paula
Gökçay, Gülden
Grünewald, Stephanie
Häberle, Johannes
Jaeken, Jaak
Ketteridge, David
Lindner, Martin
Mandel, Hanna
Martinelli, Diego
Martins, Esmeralda G.
Schwab, Karl O.
Gruenert, Sarah C.
Schwahn, Bernd C.
Sztriha, László
Tomaske, Maren
Trefz, Friedrich
Vilarinho, Laura
Rosenblatt, David S.
Fowler, Brian
Dionisi-Vici, Carlo
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1561131690
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1561131690
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-014-9687-6
