Environmental Engineering Reference
In-Depth Information
with off-line capillary electrophoresis for compositional mapping and structural
investigation of a fraction denoted
BQ5
, obtained from the urine of a Schindler
disease type I patient [
68
]. Off-line CE MS, which involves collection of CE
separated fractions and their subsequent MS analysis, might be considered as a
convenient approach due to its flexibility toward system optimization since: (1) the
experimental conditions for the CE and MS instruments can be set separately;
(2) different types and configurations of MS ion sources can be used. However,
off-line CE MS exhibits a major drawback, namely the lack of sensitivity since the
separated components are collected and inevitably diluted in the CE buffer [
68
].
By combining for the first time the off-line CE, NanoMate robot and QTOF MS
in a 3-stage platform this disadvantage was eliminated due to the elevated sensi-
tivity of the NanoMate QTOF MS.
All the achievements presented here highlight the emerging role of chip-based
mass spectrometry as a viable routine tool for early diagnosis of lysosomal storage
diseases. In combination with high-performance mass analyzers, these devices
characterized by reproducibility, speed, sensitivity and low cost of analysis will
certainly become in the near future widespread used in the management of these
rare, however, devastating diseases.
Acknowledgements The financial support provided to M.S. through the strategic grant
POSDRU/159/1.5/S/137750, Project “Doctoral and Postdoctoral programs support for increased
competitiveness in Exact Sciences research” co-financed by the European Social Fund within the
Sectorial Operational Programme Human Resources Development 2007-2013 is gratefully
acknowledged. A.D.Z. thanks to the Romanian National Authority for Scientific Research,
ANCS/UEFISCDI, for the financial support through the research projects PN-II-ID-PCE-2011-
3-0047, PN-II-RU-TE-2011-2-0008, PN-II-PT-PCCA-2013-4-0191 contract No. 118/2014 and to
the European Commission, project FP7 Marie Curie-PIRSES-G A-2010-269256.
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