Recommendations for the management of tyrosinaemia type 1.
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ABSTRACT:
SUBMITTER: de Laet C
PROVIDER: S-EPMC3558375 | biostudies-other | 2013
REPOSITORIES: biostudies-other
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Recommendations for the management of tyrosinaemia type 1.
de Laet Corinne C Dionisi-Vici Carlo C Leonard James V JV McKiernan Patrick P Mitchell Grant G Monti Lidia L de Baulny Hélène Ogier HO Pintos-Morell Guillem G Spiekerkötter Ute U
Orphanet journal of rare diseases 20130111
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 ...[more]
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