TY - JOUR
T1 - Recommendations for the management of tyrosinaemia type 1
AU - de Laet, Corinne
AU - Dionisi-Vici, Carlo
AU - Leonard, James V.
AU - McKiernan, Patrick
AU - Mitchell, Grant
AU - Monti, Lidia
AU - de Baulny, H. Ogierélène
AU - Pintos-Morell, Guillem
AU - Spiekerkötter, Ute
PY - 2013/1/11
Y1 - 2013/1/11
N2 - 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.
AB - 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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U2 - 10.1186/1750-1172-8-8
DO - 10.1186/1750-1172-8-8
M3 - Article
C2 - 23311542
AN - SCOPUS:84872137635
SP - 8
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
SN - 1750-1172
ER -