Rare Diseases Symptoms Automatic Extraction
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CblC/D defect combined with haemodynamically highly relevant VSD.
[homocystinuria without methylmalonic aciduria]
An
infant
with
combined
methylmalonic
aciduria
and
homocystinuria
(
cblC
/
D
defect
)
presented
with
significant
VSD
.
She
underwent
successful
cardiac
surgery
at
53
days
.
Diseases
Validation
Diseases presenting
"combined methylmalonic aciduria and homocystinuria (cblc/d"
symptom
homocystinuria without methylmalonic aciduria
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