Hyperargininaemia: follow-up of a new case


We report a new case of hyperargininaemia (McKusick 207800) and present the results of the clinical, metabolic and neurophysiological examinations carried out before and during dietary treatment. This girl is the second child of healthy unrelated parents; mental and motor development were retarded; she walked at 24 months of age. Afterwards, an abnormal… (More)
DOI: 10.1007/BF00711380


  • Presentations referencing similar topics