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Immunohistochemistry for a bifunctional protein in patients with peroxisomal disorders.
[neonatal adrenoleukodystrophy]
Immunohistochemical
studies
using
antisera
against
bifunctional
protein
,
a
beta
-oxidation
enzyme
,
were
performed
on
liver
,
kidney
,
and
brain
tissue
specimens
from
patients
with
peroxisomal
disorders
and
from
controls
to
investigate
the
distribution
and
development
of
peroxisomes
.
Bifunctional
protein-
positive
granules
were
not
found
in
patients
with
Zellweger
syndrome
or
neonatal
adrenoleukodystrophy
,
whereas
positive
immunoreactivity
was
observed
from
8
and
6
weeks
gestation
in
the
liver
and
kidney
,
respectively
,
and
in
the
brain
,
from
23
-
25
weeks
in
the
brainstem
neurons
and
from
12
-
14
weeks
in
the
white
matter
glia
,
in
controls
.
Bifunctional
protein
immunoreactivity
then
increased
with
gestation
in
the
brain
.
These
results
suggest
that
bifunctional
protein
immunohistochemistry
is
useful
for
the
detection
of
peroxisomes
,
which
are
closely
related
to
neuronal
maturation
and
gliogenesis
in
premyelination
in
human
brain
development
.
Diseases
Validation
Diseases presenting
"neuronal maturation"
symptom
neonatal adrenoleukodystrophy
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