Hereditary tyrosinemia : pathogenesis, screening and management
"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...
Saved in:
| Other Authors | |
|---|---|
| Format | Electronic eBook |
| Language | English |
| Published |
Cham, Switzerland :
Springer,
[2017]
|
| Series | Advances in experimental medicine and biology ;
v. 959. |
| Subjects | |
| Online Access | Full text |
| ISBN | 9783319557809 9783319557793 |
| ISSN | 2214-8019 ; |
| Physical Description | 1 online resource (xv, 247 pages) : illustrations (some color), color portraits |
Cover
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| 024 | 7 | |a 10.1007/978-3-319-55780-9 |2 doi | |
| 035 | |a (OCoLC)997432677 |z (OCoLC)999543796 |z (OCoLC)1002408679 |z (OCoLC)1005810504 |z (OCoLC)1012043694 |z (OCoLC)1048098488 |z (OCoLC)1066458020 |z (OCoLC)1066563839 |z (OCoLC)1112865113 | ||
| 245 | 0 | 0 | |a Hereditary tyrosinemia : |b pathogenesis, screening and management / |c Robert M. Tanguay, editor. |
| 264 | 1 | |a Cham, Switzerland : |b Springer, |c [2017] | |
| 264 | 4 | |c ©2017 | |
| 300 | |a 1 online resource (xv, 247 pages) : |b illustrations (some color), color portraits | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 336 | |a statický obraz |b sti |2 rdacontent | ||
| 337 | |a počítač |b c |2 rdamedia | ||
| 338 | |a online zdroj |b cr |2 rdacarrier | ||
| 490 | 1 | |a Advances in experimental medicine and biology, |x 2214-8019 ; |v volume 959 | |
| 504 | |a Includes bibliographical references and index. | ||
| 505 | 0 | |a Hereditary tyrosinemia type I. Discovery of hereditary tyrosinemia in Saguenay- Lac St-Jean / Jean Larochelle -- Biochemical and clinical aspects of hereditary tyrosinemia type 1 / Geneviève Morrow, Robert M. Tanguay -- Molecular basis of HT1. Molecular aspects of the FAH mutations involved in HT1 disease / Geneviève Morrow, Francesca Angileri, Robert M. Tanguay -- Molecular pathogenesis of liver injury in hereditary tyrosinemia 1 / Robert M. Tanguay, Francesca Angileri, Arndt Vogel -- Pathology. Tyrosinemia and liver transplantation: experience at CHU Sainte-Justine / Fernando Alvarez, Grant A. Mitchell -- The liver in tyrosinemia type I: clinical management and course in Quebec / Ugur Halac, Josée Dubois, Grant A. Mitchell -- Liver transplantation for hereditary tyrosinaemia type 1 in the United Kingdom / Patrick McKiernan -- NTBC and correction of renal dysfunction / Arianna Maiorana, Carlo Dionisi-Vici -- Liver cancer in tyrosinemia type 1 / Willem G. van Ginkel, Jan P. Pennings, Francjan J. van Spronsen -- Neurological and neuropsychological problems in tyrosinemia type I patients / Willem G. van Ginkel, Rianne Jahja, Stephan C.J. Huijbregts, Francjan J. van Spronsen -- Screening. Diagnosing hepatorenal tyrosinaemia in Europe: newborn mass screening versus selective screening / Anibh M. Das, Sebene Mayorandan, Nils Janzen -- Tyrosinemia type I in Japan: a report of five cases / Kimitoshi Nakamura, Michinori Ito, Yosuke Shigematsu, Fumio Endo -- Newborn screening for hereditary tyrosinemia type I in Québec: update / Yves Giguère, Marie-Thérèse Berthier -- Hepatorenal tyrosinemia in Mexico: a call to action / Isabel Ibarra-González, Cecilia Ridaura-Sanz, Cynthia Fernández-Lainez [and others] -- Hereditary tyrosinemia type 1 in Turkey / Ayse Cigdem Aktuglu-Zeybek, Ertugrul Kiykim, M. Serif Cansever -- Management and future. From weed killer to wonder drug / Edward A. Lock -- The Québec NTBC study / Fernando Alvarez, Suzanne Atkinson, Manon Bouchard, Catherine Brunel-Guitton [and others] -- Dietary considerations in tyrosinemia type I / Francjan J. van Spronsen, Margreet van Rijn, Uta Meyer, Anibh M. Das -- Remaining challenges in the treatment of tyrosinemia from the clinician's viewpoint / Grant A. Mitchell, Hao Yang -- Fah knockout animals as models for therapeutic liver repopulation / Markus Grompe -- Gene therapy in tyrosinemia: potential and pitfalls / Sophie Carter, Yannick Doyon. | |
| 506 | |a Plný text je dostupný pouze z IP adres počítačů Univerzity Tomáše Bati ve Zlíně nebo vzdáleným přístupem pro zaměstnance a studenty | ||
| 520 | |a "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"--Publisher's description. | ||
| 590 | |a SpringerLink |b Springer Complete eBooks | ||
| 650 | 0 | |a Tyrosinosis |x Diagnosis. | |
| 650 | 0 | |a Tyrosinosis |x Treatment. | |
| 655 | 7 | |a elektronické knihy |7 fd186907 |2 czenas | |
| 655 | 9 | |a electronic books |2 eczenas | |
| 700 | 1 | |a Tanguay, Robert M., |e editor. | |
| 776 | 0 | 8 | |i Print version: |t Hereditary tyrosinemia. |d Springer Verlag 2017 |z 9783319557793 |w (OCoLC)973920202 |
| 830 | 0 | |a Advances in experimental medicine and biology ; |v v. 959. |x 0065-2598 | |
| 856 | 4 | 0 | |u https://proxy.k.utb.cz/login?url=https://link.springer.com/10.1007/978-3-319-55780-9 |
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