Musty odour, mental retardation, and spastic paraplegia revealing phenylketonuria in adulthood
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
http://link.springer.com/content/pdf/10.1007/s00415-009-5358-1.pdf
Reference8 articles.
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2. Anastasoaie V, Kurzius L, Forbes P, Waisbren S (2008) Stability of blood phenylalanine levels and IQ in children with phenylketonuria. Mol Genet Metab 95:17–20
3. Centerwall SA, Centerwall WR (2000) The discovery of phenylketonuria: the story of a young couple, two retarded children, and a scientist. Pediatrics 105:89–103
4. McConnell HW, Mitchell SC, Smith RL, Brewster M (1997) Trimethylaminuria associated with seizures and behavioural disturbance: a case report. Seizure 6:317–321
5. Strauss KA, Morton DH (2003) Branched-chain ketoacyl dehydrogenase deficiency: maple syrup disease. Curr Treat Options Neurol 5:329–341
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