Atıf İçin Kopyala
GÖKAY S., USTKOYUNCU P. S., KARDAŞ F., KENDİRCİ M.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.29, sa.10, ss.1151-1157, 2016 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
29
Sayı:
10
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Basım Tarihi:
2016
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Doi Numarası:
10.1515/jpem-2015-0471
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Dergi Adı:
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Sayfa Sayıları:
ss.1151-1157
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Anahtar Kelimeler:
hepatocelluler carcinoma, nitisinone, succinylacetone, tyrosinemia type 1, HEPATOCELLULAR-CARCINOMA, HEPATORENAL TYROSINEMIA, NTBC, FUMARYLACETOACETATE, SUCCINYLACETONE, INHIBITION, PATHWAY, TURKEY
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Erciyes Üniversitesi Adresli:
Evet
Özet
Background: Hereditary tyrosinemia type 1 (HT1) is a rare, inborn error of tyrosine metabolism. It is a fatal disorder without treatment. Early treatment may prevent acute liver failure, renal dysfunction, liver cirrhosis, hepatocellular carcinoma (HCC) and improves survival. The aim of the present study is to describe the clinical, biochemical, imaging and follow-up of seven patients with HT1 and to define the consequences of the late and interrupted treatment.