Hereditary Tyrosinemia Pathogenesis, Screening and Management /

• Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
• Άλλοι συγγραφείς: Tanguay, Robert M. (Επιμελητής έκδοσης)
• Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: Cham : Springer International Publishing : Imprint: Springer, 2017.
• Σειρά: Advances in Experimental Medicine and Biology, 959
• Θέματα: Life sciences.; Proteins.; Life Sciences.; Protein Science.

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 de...

Πίνακας περιεχομένων:

• Section I: Tyrosinemia Type 1: Heredity
• Section II:The Molecular Basis of HTI
• Section III: Pathology
• Section IV: Screening, Management and The Future.