Environmental Engineering Reference
In-Depth Information
comparison with glass nanospray capillaries, these thin microsprayers were found
to provide superior stability of the spray with time, improved S/N at various flow
rates. Several approaches for interfacing MS to silicon, glass, or polymer chips,
providing flow rates which include them in categories from nano- to microsprayers,
were reported. Different configurations such as single and triple quadrupole, TOF,
IT, and ultra-high-resolution FTICR mass spectrometers were adapted to chip-
based ESI and contributed significant benefits for various studies. However, as
nicely illustrated already by a number of reviews [
31
-
33
] the general areas of
implementation and applications of chip technologies either silicon-based, glass, or
polymer microchips have by far been primarily proteomics, genomics, cell analysis,
drug discovery, glycomics and metabolomics.
The potential of the modern chip-based ESI systems considerably broadened the
area of MS applicability in life sciences. The option for miniaturized, integrated
devices for sample infusion into MS is driven by several technical, analytical and
economical advantages [
34
] such as: (1) simplification of the laborious chemical
and biochemical strategies required currently for MS research; (2) high-throughput
nanoanalysis/identification of biomolecules; (3) elimination of the time-consuming
optimization procedures; (4) increase of the sensitivity by drastically reduction of
the sample and reagent consumption, sample handling and potential sample loss;
(5) high reproducibility of the experiments; (6) potential to discover novel biolog-
ically relevant structures due to increased ionization efficiency; (7) high signal-to-
noise ratio; (8) reduced
in-source
fragmentation; (9) flexibility and broad area of
applicability; (10) low cost of analysis and chip production; (11) possibility for
unattended high-throughput experiments reducing the man power and man inter-
vention; (12) possibility to perform several stages of sample preparation in a single
integrated unit followed by direct MS structural analysis; (13) elimination of
possible cross-contamination and carry-overs; (14) flexibility for different config-
urations, upgrading and modifications; (15) minimal infrastructure requirements for
optimal functioning; (16) reduction of the ion source size facilitating manipulation
and efficient ion transfer by precise positioning toward the MS sampling orifice.
8.3 Lysosomal Storage Diseases: Causes and Clinical
Manifestations. General Aspects
The human body is made up of billions of cells, which contain hundreds of small
organelles known as lysosomes. The term lysosome was introduced in 1955 by De
Duve [
35
] to describe what was considered to be a hypothetical particle,
unobserved by then with the microscope. Later studies in the field clearly demon-
strated that the lysosome represents the storage sites not only for acid phosphatases,
but also for various types of enzymes belonging to the group of lytic enzymes
[
36
-
38
].
