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Hereditary tyrosinemia type 1 (HT1), the most severe inborn error
of the tyrosine degradation pathway, is due to a deficiency in
fumarylacetoacetate hydrolase (FAH). The worldwide frequency of HT1
is one per 100,000 births, but some regions have a significantly
higher incidence (1:1,800). The FAH defect results in the
accumulation of toxic metabolites, mainly in the liver. If left
untreated, HT1 is usually fatal before the age of two. HT1 patients
develop several chronic complications including cirrhosis with a
high risk of hepatocellular carcinoma (HCC) and neuropsychological
impairment. Treatment comprises an inhibitor of the pathway,
Nitisinone, a strict dietary treatment or liver transplantation.
Early treatment is important to avoid HCC. The book includes the
latest developments on the molecular basis of HT1, its pathology,
screening and diagnosis and management of the disease written by
leading scientists, geneticists, hepatologists and clinicians in
the field.
Based upon a workshop entitled “The Small HSP World” held in
Québec 2-5 October 2014. Twenty-five scientists provided chapters
for the book. The chapters are from the best scientists currently
working in this field. These colleagues include Arrigo,
Benesch, Benjamin, Buchner-Haslbeck-Weinkauf, Benndorf, Boelens,
Carra, Chang, Currie, Ecroyd, Emanuelsson, Fu, Garrido, Golenhofen,
Gusev, Hightower, Kampinga, Lavoie, MacRae, Quinlan, Tanguay,
Vierling, Vigh, Weeks and Wu. Briefly, the book starts with the
structure of small heat shock proteins, moving to their functions
and finishing with their involvement in diseases. Although this is
quite broad, the structural aspect will be the unifying theme of
the book.
Based upon a workshop entitled "The Small HSP World" held in Quebec
2-5 October 2014. Twenty-five scientists provided chapters for the
book. The chapters are from the best scientists currently working
in this field. These colleagues include Arrigo, Benesch, Benjamin,
Buchner-Haslbeck-Weinkauf, Benndorf, Boelens, Carra, Chang, Currie,
Ecroyd, Emanuelsson, Fu, Garrido, Golenhofen, Gusev, Hightower,
Kampinga, Lavoie, MacRae, Quinlan, Tanguay, Vierling, Vigh, Weeks
and Wu. Briefly, the book starts with the structure of small heat
shock proteins, moving to their functions and finishing with their
involvement in diseases. Although this is quite broad, the
structural aspect will be the unifying theme of the book.
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