First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria.
J Inherit Metab Dis
; 28(6): 1141-2, 2005.
Article
in En
| MEDLINE
| ID: mdl-16435209
ABSTRACT
Prenatal diagnosis was offered to a family at risk of mevalonic aciduria. A chorionic villus sample was obtained and both mevalonate kinase activity and mutation analysis were done. An affected fetus was diagnosed.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Prenatal Diagnosis
/
Metabolism, Inborn Errors
/
Mevalonic Acid
/
Mutation
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Risk_factors_studies
Limits:
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
J Inherit Metab Dis
Year:
2005
Document type:
Article
Affiliation country:
France
