Rare Diseases Symptoms Automatic Extraction
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Lifetime risk estimators in epidemiological studies of Krabbe Disease: Review and Monte Carlo comparison.
[krabbe disease]
This
review
addresses
difficulties
arising
in
estimating
epidemiological
parameters
of
leukodystrophies
and
lysosomal
storage
disorders
,
with
special
focus
on
Krabbe
disease
.
Although
multiple
epidemiological
studies
of
Krabbe
disease
have
been
published
,
these
studies
are
difficult
to
reconcile
since
they
have
used
different
study
populations
and
varying
methods
of
calculation
.
Confusion
exists
regarding
which
epidemiological
parameters
have
been
estimated
;
the
current
review
shows
that
most
previous
estimates
can
be
properly
interpreted
as
lifetime
risk
at
birth
.
One
of
the
most
common
estimation
methods
is
shown
to
be
inaccurate
,
while
two
other
methods
are
shown
to
be
approximately
accurate
.
Based
on
the
results
of
the
current
paper
,
recommendations
are
made
that
are
expected
to
improve
the
quality
of
future
studies
of
Krabbe
disease
.
It
is
anticipated
that
these
recommendations
will
be
applicable
to
epidemiological
studies
of
other
lysosomal
storage
disorders
,
as
well
as
any
other
rare
diseases
diagnosed
with
enzymatic
screening
.
Diseases
Validation
Diseases presenting
"confusion"
symptom
acute rheumatic fever
alexander disease
cadasil
dedifferentiated liposarcoma
dracunculiasis
krabbe disease
liposarcoma
locked-in syndrome
neuralgic amyotrophy
pleomorphic liposarcoma
proteus syndrome
pyomyositis
scrub typhus
systemic capillary leak syndrome
waldenström macroglobulinemia
well-differentiated liposarcoma
This symptom has already been validated