Title |
Recommendations for the management of tyrosinaemia type 1
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, January 2013
|
DOI | 10.1186/1750-1172-8-8 |
Pubmed ID | |
Authors |
Corinne de Laet, Carlo Dionisi-Vici, James V Leonard, Patrick McKiernan, Grant Mitchell, Lidia Monti, Hélène Ogier de Baulny, Guillem Pintos-Morell, Ute Spiekerkötter |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Mexico | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | <1% |
Germany | 1 | <1% |
Unknown | 161 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 25 | 15% |
Student > Bachelor | 25 | 15% |
Other | 14 | 9% |
Researcher | 14 | 9% |
Student > Ph. D. Student | 11 | 7% |
Other | 23 | 14% |
Unknown | 51 | 31% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 49 | 30% |
Pharmacology, Toxicology and Pharmaceutical Science | 16 | 10% |
Biochemistry, Genetics and Molecular Biology | 15 | 9% |
Agricultural and Biological Sciences | 13 | 8% |
Engineering | 4 | 2% |
Other | 10 | 6% |
Unknown | 56 | 34% |