Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis. [electronic resource]
Producer: 20050228Description: 857-60 p. digitalISSN:- 0197-3851
- Adult
- Amino Acid Metabolism, Inborn Errors -- blood
- Arginase -- analysis
- Child, Preschool
- Diagnosis, Differential
- Erythrocytes -- enzymology
- Female
- Genetic Predisposition to Disease
- Humans
- Hyperargininemia
- Infant
- Male
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Pregnancy
- Pregnancy Trimester, Second
- Prenatal Diagnosis
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Publication Type: Case Reports; Journal Article
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