Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Investigation of a wide spectrum of inherited metabolic disorders by 13C NMR spectroscopy.
[canavan disease]
High
-resolution
(
1
)
H
NMR
spectroscopy
of
body
fluids
has
proved
to
be
very
useful
in
diagnostics
of
inherited
metabolic
diseases
,
whereas
(
13
)
C
NMR
remains
almost
unexploited
.
In
this
paper
the
application
of
(
13
)
C
NMR
spectroscopy
of
fivefold
concentrated
urine
samples
for
diagnosis
of
selected
metabolic
diseases
is
reported
.
Various
marker
metabolites
were
identified
in
test
urine
samples
from
33
patients
suffering
from
10
different
diseases
,
providing
information
which
could
be
crucial
for
their
diagnoses
.
Spectra
were
accumulated
for
2
h
or
overnight
when
using
spectrometers
operating
at
9
.
4
or
4
.
7
T
magnetic
fields
,
respectively
.
Interpretation
of
the
measurement
results
was
based
on
a
comparison
of
the
peak
positions
in
the
measured
spectrum
with
reference
data
.
The
paper
contains
a
table
with
(
13
)
C
NMR
chemical
shifts
of
73
standard
compounds
.
The
method
can
be
applied
individually
or
as
an
auxiliary
technique
to
(
1
)
H
NMR
or
any
other
analytical
method
.
