Two sistes with isovaleric acidaemia, multiple attacks of ketoacidosis and normal development
- 1 September 1979
- journal article
- case report
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 131 (3) , 205-211
- https://doi.org/10.1007/bf00538944
Abstract
Two sisters with isovaleric acidaemia are described. Both had multiple attacks of acetonaemic vomiting, sometimes leading to subcoma. Despite this they showed a completely normal mental development. Biochemical studies, clinical follow-up and attempts at treatment are presented.Keywords
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