Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency

Tyrosine hydroxylase deficiency (THD) is a treatable inborn error of dopamine biosynthesis caused by mutations in TH. Two presentations are described. Type A, milder, presents after 12 months of age with progressive hypokinesis and rigidity. Type B presents before 12 months as a progressive complex...

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Detalles Bibliográficos
Autores principales: Champagne, Marjolaine, Horvath, Gabriella A., Perreault, Sébastien, Gauthier, Julie, Hyland, Keith, Soucy, Jean‐François, Mitchell, Grant A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9458604/
https://www.ncbi.nlm.nih.gov/pubmed/36101825
http://dx.doi.org/10.1002/jmd2.12306

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