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Newborn screening for metabolic diseases: saving children's lives and improving outcomes.
[phenylketonuria]
Newborn
screening
for
metabolic
diseases
was
initially
introduced
in
the
1960
s
with
a
program
for
the
early
diagnosis
of
phenylketonuria
.
Guidelines
for
the
introduction
of
additional
conditions
to
the
screen
required
that
the
condition
was
sufficiently
common
to
merit
screening
,
that
it
was
treatable
and
that
the
cost
of
diagnosis
was
not
prohibitive
.
Additional
conditions
added
to
the
screen
included
congenital
hypothyroidism
and
congenital
adrenal
hyperplasia
.
The
recognition
of
medium-chain
acyl
0
CoA
dehydrogenase
deficiency
coupled
to
the
advent
of
tandem
mass
spectrometry
as
a
diagnostic
tool
allowed
for
the
inclusion
of
many
more
conditions
into
screening
programs
,
some
of
which
do
not
fit
the
original
criteria
for
inclusion
.
This
presentation
will
discuss
the
current
state
of
newborn
screening
for
metabolic
diseases
and
report
on
clinical
outcome
measures
of
patients
identified
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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