Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
https://link.springer.com/content/pdf/10.1007/s00415-023-11760-9.pdf
Reference62 articles.
1. Hillert A, Anikster Y, Belanger-Quintana A et al (2020) The genetic landscape and epidemiology of phenylketonuria. Am J Hum Genet 107(2):234–250. https://doi.org/10.1016/j.ajhg.2020.06.006
2. van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM (2021) Phenylketonuria. Nat Rev Dis Primers 7(1):36. https://doi.org/10.1038/s41572-021-00267-0
3. Weglage J, Oberwittler C, Marquardt T, Schellscheidt J, von Teeffelen-Heithoff A, Koch G, Gerding H (2000) Neurological deterioration in adult phenylketonuria. J Inherit Metab Dis 23(1):83–4. https://doi.org/10.1023/a:1005607115309
4. Kasim S, Moo LR, Zschocke J, Jinnah HA (2001) Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia. J Neurol Neurosurg Psychiatry 71(6):795–797. https://doi.org/10.1136/jnnp.71.6.795
5. Jousserand G, Antoine JC, Camdessanché JP (2010) Musty odour, mental retardation, and spastic paraplegia revealing phenylketonuria in adulthood. J Neurol 257(2):302–304. https://doi.org/10.1007/s00415-009-5358-1
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