Amino acid levels in patients with hyperammonaemia and argininosuccinic aciduria
β Scribed by T. Palmer; V.G. Oberholzer; B. Levin
- Book ID
- 115820270
- Publisher
- Elsevier Science
- Year
- 1974
- Tongue
- English
- Weight
- 518 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0009-8981
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A 22 years old female with the late-onset of argininosuccinic aciduria was successfully treated for 5 months with a mixture of essential amino acids and their keto-analogues. There was a marked change in plasma ammonia, plasma amino acids and argininosuccinic acid excretion. A long term anabolic res
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