Global ETD Search

The use of cultured cells with defects of citrulline metabolism in diagnosis and in the study of intercellular communication

Davidson, James SchonlandDivision of Chemical Pathology1985

… in two consecutive enzymes of the urea cycle, argininosuccinate synthetase and argininosuccinate lyase. Fibroblast cell lines were derived from patients with these disorders and the diagnoses, which had been made on the basis of amino acid levels in plasma and urine, were confirmed by …

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Citrulline metabolism in cultured fibroblasts : citrullinemia analysis and nitric oxide production

Shires, Karen LesleyDivision of Chemical Pathology1994

… the genetic mutation responsible for the argininosuccinate synthetase (-ASS) deficiency (1-5% activity) in this cell line was investigated. PCR analysis of the ASS cDNA revealed that the mRNA coding region (1236bp) was intact, showing no signs of major rearrangements. The ASS cDNA (1307bp) …

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Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs

Uebayashi(Yoshitoshi), Elena YukieKyoto University2017

kyoto Repository record for Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs (opens in a new tab)