Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Selective screening of inborn errors of metabolism by using the tandem mass spectrometry: pilot study of 552 children at high risk].
[homocystinuria without methylmalonic aciduria]
To
study
the
application
of
tandem
mass
spectrometry
(
MS
/
MS
)
in
the
selective
screening
of
inborn
errors
of
metabolism
(
IEM
)
in
high
risk
children
and
to
understand
the
positive
rate
and
types
of
IEM
.
MS
/
MS
was
used
to
examine
552
blood
samples
from
high
risk
cases
of
IEM
who
came
from
8
hospitals
in
Shijiazhuang
,
Hebei
Province
.
Sixty
-
four
children
(
11
.
6
%
)
were
confirmed
with
IEM
by
the
MS
/
MS
,
including
33
cases
of
methylmalonic
acidemia
or
propionic
acidemias
,
2
cases
of
phenylketonuria
,
3
cases
of
carnitine
palmotoyl
transferase
I
deficiency
,
1
case
of
long
-chain
acyl-
CoA
dehydrogenase
deficiency
,
2
cases
of
medium-chain
acyl-
CoA
dehydrogenase
deficiency
,
6
cases
of
maple
syrup
urine
disease
,
2
cases
of
short
-chain
acyl-
CoA
dehydrogenase
deficiency
,
2
cases
of
glutaric
acidemia
type
I
,
2
cases
of
isovaleric
acidemia
,
2
cases
of
homocystinuria
,
4
cases
of
carnitine
deficiency
,
1
case
of
tyrosinemia
,
1
case
of
argininosuccinic
aciduria
,
2
cases
of
citrullinemia
and
1
case
of
argininemia
.
MS
/
MS
can
be
used
to
screen
and
classify
IEM
.
Diseases
Validation
Diseases presenting
"2 cases of glutaric acidemia type i"
symptom
homocystinuria without methylmalonic aciduria
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom