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

0004-5632

10.1258/000456303321016259 doi


Amino Acids--blood
Animals
Argininosuccinate Synthase--deficiency
Child, Preschool
Citrullinemia--diagnosis
DNA Mutational Analysis
Female
Fibroblasts--metabolism
Humans
Hyperammonemia--diagnosis
Mice
Mutation, Missense
Rats
Reverse Transcriptase Polymerase Chain Reaction
Skin--metabolism