Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia
The authors present a case of citrullinemia with a genotype of argininosuccinate synthetase (ASS1), c.380 G>A (p.R127Q)/c.380 G>A (p.R127Q), in two alleles. A 3-day-old female infant presented with status epilepticus and coma. Laboratory data showed hyperammonemia and marked lactic acidosis in...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2014-11-01
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| Series: | Journal of the Formosan Medical Association |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0929664612000356 |