Rare Diseases Symptoms Automatic Extraction
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[Erythropoietic porphyrias].
[erythropoietic protoporphyria]
Erythropoietic
,
i
.
e
.
,
myelogenous
porphyrias
include
erythropoietic
protoporphyria
and
the
very
rare
congenital
protoporphyria
and
X-
linked
protoporphyria
.
Of
these
,
in
Finland
only
erythropoietic
protoporphyria
has
been
diagnosed
,
in
which
pain
and
swelling
in
the
skin
upon
sunlight
exposure
are
the
most
typical
symptoms
.
A
high
protoporphyrin
level
in
erythrocytes
and
a
typical
peak
in
the
plasma
porphyrin
spectrum
lead
to
diagnosis
.
Diseases
Validation
Diseases presenting
"a typical peak in the plasma porphyrin spectrum lead to diagnosis"
symptom
erythropoietic protoporphyria
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