Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Genetic screening for Krabbe disease: learning from the past and looking to the future.
[krabbe disease]
In
Israel
,
Krabbe
disease
is
frequent
in
two
Moslem
Arab
villages
in
the
Jerusalem
area
.
In
this
paper
we
present
our
experience
of
almost
four
decades
with
diagnosis
of
Krabbe
disease
,
carrier
screening
and
prenatal
diagnosis
.
The
screening
program
is
well
accepted
by
the
community
,
and
there
is
a
clear
trend
towards
premarital
testing
.
The
screening
program
and
prenatal
diagnosis
have
led
to
a
decrease
in
the
incidence
of
Krabbe
disease
from
1
.
6
per
1
,
000
live
births
to
0
.
82
per
1
,
000
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom