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high throughput .

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.
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Galactosemia, Hypothyroidism, Sickle cell anemia,
Thalassemia, Congenital adrenal hyperplasia-

.Homocystinuria
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ferric chloride
.
. ,
. .tandem mass spectrometry (MS/MS) -

,
.

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.
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PGD Pre-implantation Genetic Diagnosis
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o .
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o
o .
:

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.
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:

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.
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.
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.
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o
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.
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.
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o , -.
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o
, , ,.
o
.
o
.
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o
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:
.
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.
o
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o
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o
-.
o
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.
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.
.II
12B
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,.
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.
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.
.VI
.
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.
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.
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Carnitine
.III
,
.
,
, .
Very long chain fatty acids
.IV
.

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.
- .
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.DCM
. ,
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optic neuropathy pigmented
retinopathy .
EEG
.VIII
.
CT / MRI
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, .
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.
.I
.
.II

.III
.
.
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Reverse genetics .
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,
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succinylacetoacetate-
succinylacetone
.
,
,
, ,
.
.
, .
? .,
Citrulline) Argininosuccinate -
,Citrullinemia ,(Argininosuccinate synthase
Citrulline ,Argininosuccinate
Argininosuccinate . ,
.
,
Benzoate

Hippurate
.
Phenylacetate

Phenylacetylglutamine
.