Girl With Tyrosinemia Type 1 and Executive Dysfunctions Treated With Methylphenidate
Hereditary tyrosinemia type 1 (HT1; OMIM 27670) is an inborn error of tyrosine metabolism, caused by a deficiency of the enzyme fumarylacetoacetate hydrolase. This defect leads to accumulation of toxic products, which cause liver and kidney dysfunction. In patients with HT1, IQ, executive functionin...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
SciELO
2018-07-01
|
| Series: | Journal of Inborn Errors of Metabolism and Screening |
| Online Access: | https://doi.org/10.1177/2326409818785397 |