Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone

• Main Authors: Havva Yazıcı (Author), Ebru Canda (Author), Esra Er (Author), Mehmet Arda Kılınç (Author), Sema Kalkan Uçar (Author), Bülent Karapınar (Author), Mahmut Çoker (Author)
• Format: Knjiga
• Izdano: Galenos Yayinevi, 2018-03-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Hereditary tyrosinemia Type I (HTI) is an autosomal recessive disorder due to a deficiency of the enzyme fumarylacetoacetate hydrolase. The liver is the primary organ that is affected and comorbidities with renal and neurologic systems and hepatocellular carcinoma can be seen as a long-term complica...