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An unusual presentation of tyrosine hydroxylase deficiency
BACKGROUND: Dopa-responsive dystonia (DRD) has largely been associated with autosomal dominant mutations in the GCH1 gene leading to GTP cyclohydrolase 1 deficiency. More recently, a deficiency in tyrosine hydroxylase (TH) has been recognized to cause DRD. This is a rare disorder resulting from gene...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5716367/ https://www.ncbi.nlm.nih.gov/pubmed/29225908 http://dx.doi.org/10.1186/s40734-017-0065-z |