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Identification of phenylpropionylcarnitine, a new metabolite of phenylpropionic acid, in a patient with medium chain acyl-coa dehydrogenase deficiency

✍ Scribed by R. Moore; D. S. Millington; D. Norwood; N. Kodo; P. Robinson; J. F. T. Glasgow


Publisher
Springer
Year
1990
Tongue
English
Weight
362 KB
Volume
13
Category
Article
ISSN
0141-8955

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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