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Will Familial Hypercholesterolaemia Cohorts Hide Many More Lisosomal Acid Lipase Deficiency Patients?
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Orientador(es)
Resumo(s)
Aims: Lisosomal
Acid
Lipase
Deficiency
(LALD),
historical
known
as
Cholesterol
Ester
Storage
Disease
(CESD),
is
an
autosomal
lisosomal
storage
recessive
disorder
and
an
unrecognized
cause
of
dyslipidaemia.
Mutations
in
LIPA
gene
are
the
underlying
cause
of
LALD,
being
a
mutation
in
the
splice
site
of
exon
8
the
most
common
cause
of
the
disease.
Patients
with
LALD
present
dyslipidaemia
and
altered
liver
function.
The
aim
of
this
work
was
to
analyze
LIPA
gene
in
patients
with
unexplained
dyslipidaemia.
Descrição
Palavras-chave
Doenças Cardio e Cérebro-vasculares Familial Hypercholesterolaemia
Contexto Educativo
Citação
Editora
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP