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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
"blood samples"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital toxoplasmosis
cushing syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kallmann syndrome
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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