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Newborn screening for neuropathic lysosomal storage disorders.
[krabbe disease]
Interest
in
newborn
screening
(
NBS
)
for
lysosomal
storage
disorders
(
LSDs
)
has
increased
significantly
due
to
newly
developed
enzyme
replacement
therapy
(
ERT
)
,
the
need
for
early
diagnosis
,
and
advances
in
technical
developments
.
Since
the
central
nervous
system
can
not
be
treated
by
ERT
,
neuronopathic
LSDs
are
generally
not
the
primary
target
of
NBS
.
An
exception
is
Krabbe
disease
,
in
which
hematopoietic
stem
cell
transplantation
before
the
onset
of
symptoms
has
benefits
.
However
,
NBS
for
LSD
relies
on
measuring
enzyme
activities
,
so
the
most
severely
affected
individuals
(
usually
patients
with
neuronopathic
subtypes
)
will
be
detected
together
with
patients
with
less
severe
disease
.
In
the
near
future
,
NBS
is
likely
to
be
developed
for
diseases
such
as
Gaucher
,
Niemann-
Pick
A
/
B
,
and
certain
mucopolysaccharidoses
.
The
ability
to
predict
phenotypes
(
neuronopathic
or
not
)
by
enzyme
activity
and
genotyping
will
therefore
be
critical
for
adequate
patient
management
.
This
article
reviews
the
status
of
LSD
screening
and
issues
concerning
detection
of
neuronopathic
LSDs
by
screening
.
Diseases
Validation
Diseases presenting
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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