Diagnosis of autism in a rare case of tyrosine hydroxylase deficiency: a case report

BACKGROUND: Tyrosine hydroxylase deficiency (THD) is a rare movement disorder with broad phenotypic expression caused by bi-allelic mutations in the TH gene, which encode for tyrosine hydroxylase (TH) protein. Some patients with THD have improvement in dystonia with carbidopa–levodopa, a synthetic f...

Descripción completa

Detalles Bibliográficos
Autores principales: Reyes, Zoe Maria Dominique, Lynch, Emma, Henry, Julia, De Simone, Lenika Marina, Sobotka, Sarah A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088295/
https://www.ncbi.nlm.nih.gov/pubmed/37041529
http://dx.doi.org/10.1186/s12920-023-01510-1

Ejemplares similares

Ejemplares similares