Ruitenbeek, Wim Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase. [electronic resource] - Annals of clinical biochemistry Jan 2003 - 102-7 p. digital Publication Type: Case Reports; Journal Article ISSN: 0004-5632 Standard No.: 10.1258/000456303321016259 doi Subjects--Topical Terms: Amino Acids--bloodAnimalsArgininosuccinate Synthase--deficiencyChild, PreschoolCitrullinemia--diagnosisDNA Mutational AnalysisFemaleFibroblasts--metabolismHumansHyperammonemia--diagnosisMiceMutation, MissenseRatsReverse Transcriptase Polymerase Chain ReactionSkin--metabolism