ARGININOSUCCINIC ACIDURIA: CLINICAL, BIOCHEMICAL, ANATOMICAL AND NEUROPATHOLOGICAL OBSERVATIONS.

Autor: Solitare, G. B., Shih, V. E., Nelligan, D. J., Dolan Jr., T. F.
Předmět:
Zdroj: Journal of Mental Deficiency Research; Sep1969, Vol. 13 Issue 3, p153-170, 18p, 1 Diagram, 2 Charts
Abstrakt: Offers a presentation of the anatomical and biochemical findings with particular emphasis on neuropathological observations in an 8-month-old infant with argininosuccinic aciduria. Characteristics and symptoms of argininosuccinic aciduria; Comparison of the clinical manifestations of the disease with those of hyperammonaemia and citrullinaemia; Risk factors for the development of the disease.
Databáze: Supplemental Index