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. 1978 Feb;53(2):179–182. doi: 10.1136/adc.53.2.179

Acute neonatal and benign citrullinaemia in one sibship.

E A Burgess, V G Oberholzer, J M Semmens, J Stern
PMCID: PMC1545330  PMID: 646426

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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