Literature DB >> 20813594

[Recommendations and management of type I hereditary or hepatorenal tyrosinemia].

M L Couce1, L Aldámiz-Echevarría, A Baldellou, J Blasco, M A Bueno, J Dalmau, A De La Vega, M Del Toro, C Díaz, R Lama, E Leao, M Marrero, V M Navas, G Pintos.   

Abstract

Tyrosinemia type I is a potentially lethal disease if not diagnosed and treated properly. Diagnostic and therapeutic advances in recent years have significantly improved the prognosis for these patients. It is therefore important that the pediatrician has a clinical practice guideline with recommendations for diagnosis and treatment of this disease that leads to the appropriate intervention.
Copyright © 2010 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

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Year:  2010        PMID： 20813594     DOI： 10.1016/j.anpedi.2010.03.005

Source DB:  PubMed          Journal:  An Pediatr (Barc)        ISSN： 1695-4033            Impact factor:   1.500


  6 in total

1.  Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.

Authors:  Manuel Schiff; Pierre Broue; Brigitte Chabrol; Corinne De Laet; Dalila Habes; Karine Mention; Jacques Sarles; Anne Spraul; Vassili Valayannopoulos; Hélène Ogier de Baulny
Journal:  J Inherit Metab Dis       Date:  2011-12-14       Impact factor: 4.982

2.  Treatment adherence in tyrosinemia type 1 patients.

Authors:  Domingo González-Lamuño; Paula Sánchez-Pintos; Fernando Andrade; María L Couce; Luís Aldámiz-Echevarría
Journal:  Orphanet J Rare Dis       Date:  2021-06-03       Impact factor: 4.123

3.  Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.

Authors:  María Luz Couce; Paula Sánchez-Pintos; Luís Aldámiz-Echevarría; Isidro Vitoria; Victor Navas; Elena Martín-Hernández; Camila García-Volpe; Guillem Pintos; Luis Peña-Quintana; Tomás Hernández; David Gil; Félix Sánchez-Valverde; María Bueno; Iria Roca; Encarna López-Ruzafa; Carmen Díaz-Fernández
Journal:  Medicine (Baltimore)       Date:  2019-09       Impact factor: 1.817

Review 4.  Recommendations for the management of tyrosinaemia type 1.

Authors:  Corinne de Laet; Carlo Dionisi-Vici; James V Leonard; Patrick McKiernan; Grant Mitchell; Lidia Monti; Hélène Ogier de Baulny; Guillem Pintos-Morell; Ute Spiekerkötter
Journal:  Orphanet J Rare Dis       Date:  2013-01-11       Impact factor: 4.123

5.  Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

Authors:  Sebene Mayorandan; Uta Meyer; Gülden Gokcay; Nuria Garcia Segarra; Hélène Ogier de Baulny; Francjan van Spronsen; Jiri Zeman; Corinne de Laet; Ute Spiekerkoetter; Eva Thimm; Arianna Maiorana; Carlo Dionisi-Vici; Dorothea Moeslinger; Michaela Brunner-Krainz; Amelie Sophia Lotz-Havla; José Angel Cocho de Juan; Maria Luz Couce Pico; René Santer; Sabine Scholl-Bürgi; Hanna Mandel; Yngve Thomas Bliksrud; Peter Freisinger; Luis Jose Aldamiz-Echevarria; Michel Hochuli; Matthias Gautschi; Jessica Endig; Jens Jordan; Patrick McKiernan; Stefanie Ernst; Susanne Morlot; Arndt Vogel; Johannes Sander; Anibh Martin Das
Journal:  Orphanet J Rare Dis       Date:  2014-08-01       Impact factor: 4.123

Review 6.  Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1).

Authors:  Anibh Martin Das
Journal:  Appl Clin Genet       Date:  2017-07-24
  6 in total

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