Recommendations for the management of tyrosinaemia type 1

The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, p...

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Detalles Bibliográficos
Autores principales: de Laet, Corinne, Dionisi-Vici, Carlo, Leonard, James V, McKiernan, Patrick, Mitchell, Grant, Monti, Lidia, de Baulny, Hélène Ogier, Pintos-Morell, Guillem, Spiekerkötter, Ute
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3558375/
https://www.ncbi.nlm.nih.gov/pubmed/23311542
http://dx.doi.org/10.1186/1750-1172-8-8
Descripción
Sumario:The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, published case reports and investigational studies as the evidence base is limited and there are no prospective controlled studies. The added value of this paper is that it summarises in detail current clinical knowledge about HT1 and makes recommendations for the management.

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