最終更新日:2022/12/24
The primary clinical diagnosis for each individual was mainly based on the symptoms of progressive cerebellar ataxia, dysarthria and oculocutaneous telangiectasia, as well as signs of cerebellar atrophy revealed on MRI, elevated serum α-fetoprotein, and altered immunoglobulin profiles (Fig 1, Table 1 ).
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The
primary
clinical
diagnosis
for
each
individual
was
mainly
based
on
the
symptoms
of
progressive
cerebellar
ataxia,
dysarthria
and
oculocutaneous
telangiectasia,
as
well
as
signs
of
cerebellar
atrophy
revealed
on
MRI,
elevated
serum
α-fetoprotein,
and
altered
immunoglobulin
profiles
(Fig
1,
Table
1
).