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Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders.
[neonatal adrenoleukodystrophy]
The
presence
of
peroxisomal
membrane
ghosts
was
examined
in
liver
biopsies
from
eleven
patients
presenting
the
clinical
and
biochemical
picture
of
a
generalized
peroxisomal
disorder
(
Zellweger
syndrome
,
neonatal
adrenoleukodystrophy
,
infantile
Refsum
disease
and
variants
of
these
syndromes
)
.
A
polyclonal
antibody
raised
against
the
membrane
of
human
liver
peroxisomes
and
recognizing
a
43
kDa
peroxisomal
membrane
protein
(
PMP
)
was
used
.
In
human
control
liver
the
antibodies
react
in
a
distinct
and
specific
way
with
the
peroxisomal
membrane
.
Two
types
of
organelles
with
an
immunoreactive
membrane
were
identified
in
the
liver
parenchymal
cells
of
the
patients
:
organelles
containing
an
electron-
dense
core
and
organelles
with
electron
transparent
contents
.
Both
types
may
co
-occur
in
the
same
patient
;
in
two
patients
they
were
found
in
the
same
cell
.
The
organelles
are
rare
,
and
their
number
varies
between
patients
.
The
first
type
possibly
corresponds
to
the
previous
morphological
description
of
aberrant
peroxisomes
in
the
liver
of
patients
with
Zellweger
syndrome
,
neonatal
adrenoleukodystrophy
and
infantile
Refsum
disease
.
The
empty
looking
organelles
have
not
been
reported
previously
in
the
liver
,
some
of
the
"
empty
"
organelles
seem
to
be
enclosed
by
a
double
membrane
.
Morphometrical
analysis
in
three
patients
indicated
that
both
types
of
organelles
(
corrected
mean
d-circle
0
.
271
-
0
.
306
micron
for
the
"
empty
"
and
the
dense
core
organelles
,
respectively
)
are
smaller
than
the
peroxisomes
in
postnatal
control
liver
and
in
fetal
liver
.
In
one
patient
(
infantile
Refsum
disease
)
immunoreactive
organelles
were
not
detected
.
The
organelles
with
the
electron-
dense
core
were
not
found
in
two
patients
.
(
ABSTRACT
TRUNCATED
AT
250
WORDS
)
Diseases
Validation
Diseases presenting
"respectively"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
epidermolysis bullosa simplex
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
harlequin ichthyosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
kallmann syndrome
lamellar ichthyosis
liposarcoma
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
triple a syndrome
von hippel-lindau disease
well-differentiated liposarcoma
wolf-hirschhorn syndrome
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