Results 171 to 180 of about 3,625 (203)

Decreased mitochondrial oxidative capacity in hereditary tyrosinemia type 1

Scandinavian Journal of Gastroenterology, 2005
A case of decreased mitochondrial oxidative capacity in a child with hereditary tyrosinemia type 1 is herein ...
Rigante D., Gasbarrini A., Nista E. C., Candelli M.   +3 more
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Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1

2017
Inborn errors of metabolism (IEMs) are a group of diseases involving a genetic defect that alters a metabolic pathway and that presents usually during infancy. The tyrosine degradation pathway contains five enzymes, four of which being associated with IEMs.
Geneviève, Morrow, Robert M, Tanguay
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Cholestasis and hypermethioninemia during dietary management of hereditary tyrosinemia type 1

The Journal of Pediatrics, 1986
with increasing age and with the presence of hypertension and arteriosclerosis. Stebbens 1~ found that aortic coarctation and polycystic renal disease were associated with an increased incidence of cerebral aneurysms and that the increase was explainable on the basis of a high incidence of hypertension in these conditions.
V Z, Ameen, G K, Powell, D K, Rassin
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Evaluation of dichloroacetate treatment in a murine model of hereditary tyrosinemia type 1

Biochemical Pharmacology, 2006
Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease severely affecting liver and kidney and is caused by a deficiency in fumarylacetoacetate hydrolase (FAH). Administration of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) improves the HT1 phenotype but some patients do not respond to NTBC therapy.
Chantale, Langlois, Rossana, Jorquera, Milton, Finegold, Albert L, Shroads, Peter W, Stacpoole, Robert M, Tanguay   +5 more
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Imaging features of type 1 hereditary tyrosinemia: a review of 30 patients

Pediatric Radiology, 1996
Hereditary tyrosinemia type 1, a common genetic disorder in the province of Quebec, is characterized by a deficiency of fumarylacetoacetate hydrolase. In this autosomal recessive disorder of tyrosine metabolism, the accumulation of succinylacetone leads to neurologic crises, acute and chronic liver failure, complex renal tubulopathy, rickets and a ...
J, Dubois, L, Garel, H, Patriquin, K, Paradis, S, Forget, D, Filiatrault, A, Grignon, P, Russo, D, St-Vil   +8 more
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Impaired DNA repair and genomic stability in hereditary tyrosinemia type 1

Gene, 2012
The autosomal recessive disorder, hereditary tyrosinemia type 1 (HT1), is caused by a defective fumarylacetoacetate hydrolase enzyme. Consequently intermediate metabolites such as fumarylacetoacetate, succinylacetone and p-hydroxyphenylpyruvic acid accumulate. Characteristic to HT1 is the development of hepatocellular carcinoma, irrespective of dietary
Van Dyk, E., Pretorius, P.J.
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Hereditary tyrosinemia type 1 metabolites impair DNA excision repair pathways

Biochemical and Biophysical Research Communications, 2010
Hereditary tyrosinemia type 1 is an autosomal recessive metabolic disorder, which is caused by a defective fumarylacetoacetate hydrolase enzyme, and consequently metabolites such as succinylacetone and p-hydroxyphenylpyruvate accumulate. We used a modified comet assay to determine the effect of these metabolites on base- and nucleotide excision repair ...
E, van Dyk, A, Steenkamp, G, Koekemoer, P J, Pretorius   +3 more
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Early effect of NTBC on renal tubular dysfunction in hereditary tyrosinemia type 1

Molecular Genetics and Metabolism, 2014
Hereditary tyrosinemia type 1 (HT1) is characterized by severe progressive liver disease and renal tubular dysfunction. NTBC therapy has revolutionized the management of HT1 but its effect on renal tubular function has so far been poorly investigated.
A, Maiorana, M, Malamisura, F, Emma, S, Boenzi, V M, Di Ciommo, C, Dionisi-Vici   +5 more
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Hereditary tyrosinemia type 1 in Turkey: Twenty year single‐center experience

Pediatrics International, 2014
AbstractBackgroundHereditary 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.MethodsA retrospective single center study was carried out based on the ...
A Cigdem Aktuglu, Zeybek, Ertugrul, Kiykim, Erdogan, Soyucen, Serif, Cansever, Suheyla, Altay, Tanyel, Zubarioglu, Tulay, Erkan, Ahmet, Aydin   +7 more
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Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia type 1 (HT1)

Biochemical Society Transactions, 2015
The nuclear erythroid 2-like 2 transcription factor (NRF2), is a major regulator of cellular redox balance. Although NRF2 activation is generally regarded as beneficial to human health, recent studies have identified that sustained NRF2 activation is over-represented in many cancers. This raises the question regarding the role of NRF2 activation in the
Ivraj Singh, Sandhu, Nicholas James, Maksim, Eva Alice, Amouzougan, Bryce Wilson, Gallion, Anthony L J, Raviele, Aikseng, Ooi   +5 more
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