Effect of Delayed Diagnosis of Phenylketonuria With Imaging Findings of Bilateral Diffuse Symmetric White Matter Lesions: A Case Report and Literature Review

Phenylketonuria is a hereditary metabolic disorder due to the deficiency of tetrahydrobiopterin or phenylalanine hydroxylase. Delayed diagnoses of it manifest a progressive irreversible neurological impairment in the early years of the disease. Guthrie test and tandem mass spectrometry aided in earl...

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Detalles Bibliográficos
Autores principales: Chen, Shuna, Zhu, Mingqin, Hao, Yulei, Feng, Jiachun, Zhang, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6788382/
https://www.ncbi.nlm.nih.gov/pubmed/31636599
http://dx.doi.org/10.3389/fneur.2019.01040

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6788382/
https://www.ncbi.nlm.nih.gov/pubmed/31636599
http://dx.doi.org/10.3389/fneur.2019.01040

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