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Fifty years of phenylketonuria newborn screening - A great success for many, but what about the rest?
[phenylketonuria]
Guthrie
's
landmark
discovery
and
the
subsequent
implementation
of
the
first
newborn
screening
programs
for
phenylketonuria
(
PKU
)
and
other
inherited
errors
of
metabolism
(
IEM
)
could
be
-
in
a
50
year
retrospective
-
easily
considered
among
the
greatest
advances
in
medicine
.
They
have
not
just
improved
the
quality
of
hundreds
of
thousands
of
lives
,
but
also
transformed
our
understanding
and
approach
to
PKU
and
IEM
in
general
.
However
,
according
to
the
available
albeit
very
scarce
data
,
many
countries
and
regions
seem
not
to
share
the
benefits
of
the
last
50
years
of
development
.
Many
of
them
have
not
yet
introduced
the
newborn
screening
for
PKU
or
face
significant
problems
in
its
implementation
.
In
addition
,
the
issue
seems
to
be
underrated
by
the
relevant
professional
forums
.
Action
to
improve
the
current
situation
should
urgently
be
taken
.
Diseases
Validation
Diseases presenting
"inherited errors of metabolism"
symptom
phenylketonuria
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