| Literature DB >> 646426 |
E A Burgess, V G Oberholzer, J M Semmens, J Stern.
Abstract
Citrullinaemia was diagnosed in an infant who died at age 8 days. The clinical picture was of the disease in its acute neonatal form. A sib has a blood citrulline of 100 times normal and about 10% of normal argininosuccinic acid synthetase activity in cultured fibroblasts. Clinically he is normal with an IQ of 94 on the Wechsler Intelligence Scale for Children.Entities:
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Year: 1978 PMID： 646426 PMCID： PMC1545330 DOI： 10.1136/adc.53.2.179
Source DB: PubMed Journal: Arch Dis Child ISSN： 0003-9888 Impact factor: 3.791