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Neonatal form of isovaleric acidemia. Apropos of a new case |
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| Authors: | P Beauvais M O Peter B Barbier |
| Abstract: | The case reported concerns a 18 day-old girl who was hospitalized for severe toxemia. The nauseous smell, and significant ketonuria led us to suspect a disorder in amino-acids metabolism. Diagnosis was proven by gas chromatography. With adequate diet, evolution was favourable and the child had a normal psycho-motor development. |
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