Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Determination of sialylated and neutral oligosaccharides in urine by mass spectrometry.
[gm1 gangliosidosis]
This
protocol
describes
a
method
to
allow
for
the
detection
of
specific
oligosaccharide
fragments
in
urine
by
tandem
mass
spectrometry
.
The
detection
of
fragments
with
specific
masses
indicates
the
presence
of
one
of
a
number
of
diseases
where
the
deficiency
of
lysosomal
enzymes
involved
in
the
degradation
of
the
glyco-
moieties
of
glycoproteins
is
present
in
the
patient
.
This
method
describes
the
derivatization
of
oligosaccharides
present
in
urine
with
phenyl-
1
-
methylpyrazolone
,
which
renders
them
hydrophobic
,
thus
allowing
desalting
with
Combi
cleanup
columns
prior
to
injection
.
This
method
allows
the
detection
of
storage
of
oligosaccharides
,
which
may
indicate
the
presence
of
one
of
the
infantile
Pompe
disease
,
α-mannosidosis
,
Gm
1
-
gangliosidosis
,
Sandhoff
disease
,
sialidosis
,
galactosialidosis
,
I-
cell
disease
,
and
aspartylglucosaminuria
.
Diseases
Validation
Diseases presenting
"aspartylglucosaminuria"
symptom
adrenomyeloneuropathy
gm1 gangliosidosis
This symptom has already been validated