Rare Diseases Symptoms Automatic Extraction
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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
"leukodystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
coats disease
fabry disease
gm1 gangliosidosis
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated