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A random Abstract
Our Project
Our Team
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.
[krabbe disease]
To
develop
educational
guidelines
for
the
diagnostic
confirmation
and
management
of
individuals
identified
by
newborn
screening
,
family-based
testing
after
proband
identification
,
or
carrier
testing
in
at
-risk
populations
,
and
subsequent
prenatal
or
postnatal
testing
of
those
who
are
presymptomatic
for
a
lysosomal
storage
disease
.
Review
of
English
language
literature
and
discussions
in
a
consensus
development
panel
comprised
an
international
group
of
experts
in
the
clinical
and
laboratory
diagnosis
,
treatment
and
management
,
newborn
screening
,
and
genetic
aspects
of
lysosomal
storage
diseases
.
Although
clinical
trial
and
longitudinal
data
were
used
when
available
,
the
evidence
in
the
literature
is
limited
and
consequently
the
recommendations
must
be
considered
as
expert
opinion
.
Guidelines
were
developed
for
Fabry
,
Gaucher
,
and
Niemann-
Pick
A
/
B
diseases
,
glycogen
storage
type
II
(
Pompe
disease
)
,
globoid
cell
leukodystrophy
(
Krabbe
disease
)
,
metachromatic
leukodystrophy
,
and
mucopolysaccharidoses
types
I
,
II
,
and
VI
.
These
guidelines
serve
as
an
educational
resource
for
confirmatory
testing
and
subsequent
clinical
management
of
presymptomatic
individuals
suspected
to
have
a
lysosomal
storage
disease
;
they
also
help
to
define
a
research
agenda
for
longitudinal
studies
such
as
the
American
College
of
Medical
Genetics
/
National
Institutes
of
Health
Newborn
Screening
Translational
Research
Network
.
Diseases
Validation
Diseases presenting
"language literature"
symptom
familial hypocalciuric hypercalcemia
krabbe disease
liposarcoma
pendred syndrome
well-differentiated liposarcoma
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