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Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry.
[canavan disease]
Prenatal
diagnosis
of
Canavan
disease
by
measuring
N-
acetylaspartic
acid
(
NAA
)
in
amniotic
fluid
is
reliable
and
preferred
over
aspartoacylase
enzyme
assay
especially
in
populations
with
unknown
mutations
.
Typically
based
on
GC
-
MS
,
existing
methods
are
time-consuming
and
laborious
.
We
developed
a
novel
LC
-
MS
/
MS
method
for
determination
of
NAA
in
amniotic
fluid
with
minimal
sample
preparation
.
NAA
and
d
(
3
)
-
NAA
were
detected
by
negative-ion
electrospray
ionization-
MS
/
MS
.
Quantification
was
achieved
by
standard
addition
using
six
0
.
1
mL
portions
of
each
specimen
enriched
with
increasing
NAA
amounts
(
0
,
0
.
05
,
0
.
1
,
0
.
2
,
0
.
3
,
and
0
.
4
microg
)
and
endogenous
NAA
was
calculated
by
extrapolation
.
Injection-
to
-injection
time
was
2
min
whereas
the
turn
around
time
from
sample
receipt
was
about
1
h
.
Intraday
(
n
=
10
)
and
interday
(
n
=
10
)
variations
were
less
than
9
.
4
%
.
The
reference
range
determined
using
gestation-matched
controls
(
n
=
12
)
of
1
.
1
-
2
.
7
micromol
/
L
is
in
agreement
with
the
literature
.
Specimens
from
at
-risk
pregnancies
with
established
diagnosis
(
n
=
4
)
were
successfully
analyzed
.
We
developed
a
new
method
that
enables
reliable
,
sensitive
,
and
selective
determination
of
NAA
in
a
small
volume
of
amniotic
fluid
for
the
prenatal
diagnosis
of
Canavan
disease
.
The
simple
sample
preparation
adopted
in
this
work
precluded
the
necessity
for
extraction
and
derivatization
.
Diseases
Validation
Diseases presenting
"simple sample preparation"
symptom
canavan disease
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