par De Laet, Corinne 
;Dionisi-Vici, Carlo;Leonard, James Vivian;McKiernan, Patrick;Mitchell, Grant;Monti, Lidia;De Baulny, Hélène Ogier;Pintos-Morell, Guillem;Spiekerkötter, Ute
Référence Orphanet journal of rare diseases, 8, 8
Publication Publié, 2013
;Dionisi-Vici, Carlo;Leonard, James Vivian;McKiernan, Patrick;Mitchell, Grant;Monti, Lidia;De Baulny, Hélène Ogier;Pintos-Morell, Guillem;Spiekerkötter, UteRéférence Orphanet journal of rare diseases, 8, 8
Publication Publié, 2013
Article révisé par les pairs
| Résumé : | 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. |
