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Enantioselective analysis of ketone bodies in patients with β-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting

✍ Scribed by Martin Heil; Frank Podebrad; Elisa Prado; Thomas Beck; Armin Mosandl; Adrian C Sewell; Hans Böhles; Willy Lehnert

Book ID: 108447537
Publisher: Elsevier Science
Year: 2000
Weight: 319 KB
Volume: 739
Category: Article
ISSN: 0378-4347
DOI: 10.1016/s0378-4347(00)00022-0

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## Abstract We report on a 6‐year‐old girl who presented at 6 months of age with seizures, delayed psychomotor development and mild facial dysmorphism. A small muscular ventricular septal defect was documented on echocardiogram and brain MRI showed a frontal brain anomaly. Urine organic acid analys