Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.
[child syndrome]
In
the
last
decades
,
nine
inherited
errors
of
the
distal
part
of
cholesterol
biosynthesis
have
been
recognized
.
Affected
patients
present
complex
malformation
syndromes
involving
different
organs
and
systems
with
variable
degrees
of
severity
.
We
report
on
the
phenotype
evolution
of
three
patients
with
enzymatic
defects
at
three
distinct
steps
of
such
pathway
:
Smith-
Lemli-
Opitz
syndrome
,
X-
linked
dominant
chondrodysplasia
punctata
type
2
and
congenital
hemidysplasia
with
ichthyosiform
erythroderma
and
limb
defects
syndrome
.
The
patients
'
natural
history
,
from
childhood
to
adulthood
,
is
thoroughly
described
in
order
to
contribute
for
a
better
knowledge
of
these
diseases
.
Our
ultimate
goals
are
to
contribute
for
a
better
characterization
of
the
long
-term
course
of
these
metabolic
disorders
and
for
the
recognition
of
such
diseases
in
older
patients
.