Results 161 to 170 of about 3,625 (203)

The Pathophysiology and Treatment of Hereditary Tyrosinemia Type 1

Seminars in Liver Disease, 2001
The topic of this review is hepatorenal tyrosinemia (hereditary tyrosinemia type 1 [HT1], or fumarylacetoacetate hydrolase deficiency; OMIM# 276700). HT1 is the most serious and common of the genetic defects in tyrosine degradation. In addition, this disorder has importance as a model of spontaneous self-correction of liver disease, as a model of liver
Markus Grompe
exaly   +3 more sources

The outcome of seven patients with hereditary tyrosinemia type 1

Journal of Pediatric Endocrinology and Metabolism, 2016
AbstractBackground: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,
USTKOYUNCU, Pembe Soylu, KENDİRCİ, Mustafa, KARDAŞ, Fatih, GÖKAY, Songül   +3 more
openaire   +3 more sources

Hereditary Tyrosinemia Type 1 in Turkey

2017
Hereditary tyrosinemia type 1 (HT1, OMIM 276700) is a rare autosomal recessively inherited inborn error of metabolism in the tyrosine catabolic pathway due to deficiency of the enzyme fumarylacetoacetate hydrolase. The clinical features of HT1 are widely heterogenous even within the same family members. Clinical features includes acute or chronic liver
Cigdem Aktuglu-Zeybek, Ayse, Kiykim, Ertugrul, Cansever, M. Serif   +2 more
openaire   +2 more sources