Hereditary tyrosinemia type 1 in Turkey: Twenty year single-center experience

AKTUĞLU ZEYBEK, Ayşe; Kiykim, Ertugrul; SOYUÇEN, ERDOĞAN; CANSEVER, Mehmet; Altay, Suheyla; Zubarioglu, Tanyel; Erkan, Tulay; AYDIN, Ahmet

doi:10.1111/ped.12503

Hereditary tyrosinemia type 1 in Turkey: Twenty year single-center experience

AKTUĞLU ZEYBEK A. Ç., Kiykim E., SOYUÇEN E., CANSEVER M. Ş., Altay S., Zubarioglu T., ...Daha Fazla

PEDIATRICS INTERNATIONAL, cilt.57, sa.2, ss.281-289, 2015 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 57 Sayı: 2
Basım Tarihi: 2015
Doi Numarası: 10.1111/ped.12503
Dergi Adı: PEDIATRICS INTERNATIONAL
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.281-289
Anahtar Kelimeler: hepatocellular carcinoma, liver transplantation, NTBC, Turkey, tyrosinemia type 1, NTBC TREATMENT, HEPATORENAL TYROSINEMIA, NEUROLOGICAL CRISIS, NITISINONE, 2-(2-NITRO-4-TRIFLUOROMETHYLBENZOYL)-1,3-CYCLOHEXANEDIONE, FUMARYLACETOACETATE, INHIBITION, PATHWAY
Akdeniz Üniversitesi Adresli: Evet

Özet

BackgroundHereditary tyrosinemia type 1(HT1) is a chronic disorder leading to severe hepatic, renal and peripheral nerve damage if left untreated. Despite nitisinone treatment HT1 still carries the risks of hepatocellular carcinoma (HCC) and neuropsychological outcome.