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

M L Couce; 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

doi:10.1016/j.anpedi.2010.03.005

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

An Pediatr (Barc). 2010 Nov;73(5):279.e1-4. doi: 10.1016/j.anpedi.2010.03.005. Epub 2010 Sep 1.

[Article in Spanish]

Authors

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

Affiliation

¹ Departamento de Pediatría, Hospital Clínico Universitario de Santiago, Santiago de Compostela, España. [email protected]

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

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.

Publication types

English Abstract

MeSH terms

Child
Humans
Practice Guidelines as Topic
Tyrosinemias / diagnosis
Tyrosinemias / therapy