Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Crystalline retinopathy in primary hyperoxaluria.
[primary hyperoxaluria type 1]
We
present
the
case
of
a
2
.
5
-
month
-old
boy
with
type
1
primary
hyperoxaluria
and
severe
systemic
oxalosis
resulting
in
massive
retinal
crystalline
deposition
.
Maculopathy
was
demonstrated
by
optical
coherence
tomography
,
and
nystagmus
was
present
.
Electroretinography
demonstrated
retinal
dysfunction
,
unusual
in
oxalosis
.
Diseases
Validation
Diseases presenting
"severe systemic oxalosis resulting in massive retinal crystalline deposition"
symptom
primary hyperoxaluria type 1
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