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Qualitative urinary organic acid analysis: methodological approaches and performance.
[canavan disease]
A
programme
for
proficiency
testing
of
biochemical
genetics
laboratories
undertaking
urinary
qualitative
organic
acid
analysis
and
its
results
for
50
samples
examined
for
factors
contributing
to
poor
performance
are
described
.
Urine
samples
from
patients
in
whom
inherited
metabolic
disorders
have
been
confirmed
as
well
as
control
urines
were
circulated
to
participants
and
the
results
from
94
laboratories
were
evaluated
.
Laboratories
showed
variability
both
in
terms
of
their
individual
performance
and
on
a
disease-
specific
basis
.
In
general
,
conditions
including
methylmalonic
aciduria
,
propionic
aciduria
,
isovaleric
aciduria
,
mevalonic
aciduria
,
Canavan
disease
and
3
-
methylcrotonyl-
CoA
carboxylase
were
readily
identified
.
Detection
was
poorer
for
other
diseases
such
as
glutaric
aciduria
type
II
,
glyceric
aciduria
and
,
in
one
sample
,
3
-
methylcrotonyl-
CoA
carboxylase
deficiency
.
To
identify
the
factors
that
allow
some
laboratories
to
perform
well
on
a
consistent
basis
while
others
perform
badly
,
we
devised
a
questionnaire
and
compared
the
responses
with
the
results
for
performance
in
the
scheme
.
A
trend
towards
better
performance
could
be
demonstrated
for
those
laboratories
that
regularly
use
internal
quality
control
(
QC
)
samples
in
their
sample
preparation
(
p
=
0
.
079
)
and
those
that
participate
in
further
external
quality
assurance
(
EQA
)
schemes
(
p
=
0
,
040
)
.
Clinicians
who
depend
upon
these
diagnostic
services
to
identify
patients
with
these
defects
and
the
laboratories
that
provide
them
should
be
aware
of
the
potential
for
missed
diagnoses
and
the
factors
that
may
lead
to
improved
performance
.
Diseases
Validation
Diseases presenting
"its results for 50 samples examined for factors contributing to poor performance are described"
symptom
canavan disease
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