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Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I
Hereditary tyrosinaemia type I, a severe autosomal recessive metabolic disease, affects the liver and kidneys and is caused by deficiency of fumarylacetoacetate hydrolase (FAH). Mice homozygous for aExpand
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On the enzymic defects in hereditary tyrosinemia.
The activity of the enzyme porphobilinogen synthase (EC 4.2.1.24) in erythrocytes from patients with hereditary tyrosinemia was less than 5% of that in a control group and the activity in liverExpand
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Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase
Liver transplantation is the only effective treatment for hereditary tyrosinaemia type I (McKusick 276700). We have treated one acute and four subacute-chronic cases withExpand
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Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.
BACKGROUND Hepatorenal tyrosinemia (HT1, fumarylacetoacetate hydrolase deficiency, MIM 276700) can cause severe hepatic, renal and peripheral nerve damage. In Québec, HT1 is frequent and neonatal HT1Expand
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Swedish obese subjects (SOS)--an intervention study of obesity. Baseline evaluation of health and psychosocial functioning in the first 1743 subjects examined.
This part of an on-going intervention trial analyses impacts of obesity on psychosocial factors and health. The study sample comprised 800 obese men (BMI > or = 34 kg/m2) and 943 women (BMI > or = 38Expand
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Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione)
In tyrosinaemia type I (McKusick 276700), fatal liver disease results either because of liver failure during infancy or early childhood or because of development of hepatocellular carcinoma duringExpand
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Nontransplant treatment of tyrosinemia.
NTBC treatment has greatly improved the survival of patients with acute tyrosinemia and has reduced the need for liver transplantation during early childhood. In patients in whom treatment with NTBCExpand
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Cytotoxic treatment of adrenocortical carcinoma
Adrenocortical carcinoma (ACC) is a rare, aggressive tumor that is often detected in an advanced stage. Medical treatment with the adrenotoxic drug mitotane has been used for decades, but criticalExpand
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A method for the determination of carnitine in the picomole range.
Abstract A method is described for the determination of L -carnitine in the range 20–2000 pmoles. Incubation of L -carnitine with [1-14C]acetyl-coenzyme A and acetyl-CoA: carnitineExpand
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