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007			cr |||||||||||
008			170801t20172017sz ac ob 001 0 eng d
020			_a3319557807 _q(electronic bk.)
020			_a9783319557809 _q(electronic bk.)
020			_z3319557793 _q(hardback ; _qalk. paper)
020			_z9783319557793 _q(hardback ; _qalk. paper)
040			_aN$T _cN$T _dGW5XE _dEBLCP _dYDX _dMMU _dOCLCO _dN$T _dUAB _dOCLCO _dESU _dAZU _dUPM _dIOG _dCOO _dOCLCQ _dMERER _dVT2 _dOCLCQ _dAUD _dTFH _dOCLCO _dES-MaUEC _bspa
050		4	_aRC632.T9 _b2017 EB
245	0	0	_aHereditary tyrosinemia : _bpathogenesis, screening and management _cRobert M. Tanguay, editor.
264		1	_aCham, Switzerland _bSpringer _c[2017]
264		4	_c2017
300			_a1 recurso en línea (xv, 247 páginas) _bilustraciones, retratos (algunos a color)
336			_astill image _bsti _2rdacontent
336			_aTexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
347			_atext file _bPDF
490	0		_aAdvances in experimental medicine and biology _x2214-8019 _vvolume 959
500			_aSpringerLink
504			_aIncluye referencias bibliográficas e índice
505	0		_aHereditary 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.
520	3		_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.
588	0		_aOnline resource; title from PDF title page (SpringerLink, viewed August 11, 2017).
988			_aEBOOK, EBSPRINGER_2017D
650		7	_2embne _9156016 _aEnfermedades hereditarias metabólicas
700	1		_aTanguay, Robert M., _eeditor literario _993757
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=http://link.springer.com/10.1007/978-3-319-55780-9 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_b02/2018 _dz _e- _zSI