Téléchargez le livre : Hereditary Tyrosinemia

Hereditary Tyrosinemia

Pathogenesis, Screening and Management

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Éditeur :

Springer


Collection :

Advances in Experimental Medicine and Biology

Paru le : 2017-07-27



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Description
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.
Pages
247 pages
Collection
Advances in Experimental Medicine and Biology
Parution
2017-07-27
Marque
Springer
EAN papier
9783319557793
EAN PDF
9783319557809
Informations sur l'ebook
Nombre pages copiables
2
Nombre pages imprimables
24
Taille du fichier
8079 Ko
Ce livre est accessible aux handicaps Voir les informations sur l'accessibilité
Prix
168,79 €
EAN EPUB
9783319557809
Informations sur l'ebook
Nombre pages copiables
2
Nombre pages imprimables
24
Taille du fichier
3318 Ko
Ce livre est accessible aux handicaps Voir les informations sur l'accessibilité
Prix
168,79 €

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