Korman, Stanley H

Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis. [electronic resource] - Prenatal diagnosis Nov 2004 - 857-60 p. digital

Publication Type: Case Reports; Journal Article

0197-3851

10.1002/pd.1000 doi


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