Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Restricted diffusion in Canavan disease.
[canavan disease]
Canavan
disease
is
a
megalencephalic
leukodystrophy
due
to
deficiency
of
the
enzyme
aspartoacylase
.
Proton
MR
spectroscopy
finding
of
elevated
N-
acetyl-
L
:
-
aspartate
is
considered
diagnostic
of
Canavan
disease
.
We
report
a
case
of
Canavan
disease
,
which
showed
restricted
diffusion
in
diffusion-weighted
imaging
and
discuss
the
cause
of
it
.
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
