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Fetal tissue amino acid concentrations in argininosuccinic aciduria and in “maternal homocystinuria”

✍ Scribed by David K. Rassin; Lynn D. Fleisher; Angus Muir; Robert J. Desnick; Gerald E. Gaull

Book ID
115822460
Publisher
Elsevier Science
Year
1979
Tongue
English
Weight
599 KB
Volume
94
Category
Article
ISSN
0009-8981

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Prenatal testing of 12 pregnancies at risk for argininosuccinic aciduria due to argininosuccinate lyase (ASAL) deficiency and three pregnancies at risk for citrullinaemia due to argininosuccinate synthatase (ASAS) deficiency was performed by metabolite detection in amniotic fluid and measurement of