Hereditary tyrosinemia : pathogenesis, screening and management /: pathogenesis, screening and management. ([2017])

• Record Type: Book
• Further Information: Note: Robert M. Tanguay, editor.
• Editors: Tanguay, Robert M
• Contents: 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.
• Publisher Details: Cham, Switzerland : Springer
• Publication Date: 2017
• Copyright Date: 2017
• Extent: 1 online resource (xv, 247 pages), illustrations (some color), color portraits
• Subjects: 616.3/99; Life sciences; Tyrosinosis -- Diagnosis; Tyrosinosis -- Treatment; HEALTH & FITNESS -- Diseases -- General; MEDICAL -- Clinical Medicine; MEDICAL -- Diseases; MEDICAL -- Evidence-Based Medicine; MEDICAL -- Internal Medicine; Tyrosinemias; Amino Acid Metabolism, Inborn Errors; Hydrolases -- deficiency; Cyclohexanones -- therapeutic use; Biochemistry; Science -- Life Sciences -- Biochemistry; Proteins; Electronic books
• Languages: English
• ISBNs: 9783319557809; 3319557807
• Related ISBNs: 9783319557793; 3319557793
• Notes: Note: Includes bibliographical references and index.; Note: Online resource; title from PDF title page (SpringerLink, viewed August 11, 2017).
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.