Results 91 to 100 of about 1,331 (171)
Recommendations for the management of tyrosinaemia type 1
Orphanet Journal of Rare Diseases, 2013 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.
de Laet Corinne +8 more
doaj +1 more source
Suitability of nitisinone for alkaptonuria [PDF]
The Lancet Diabetes & Endocrinology, 2020 openaire +4 more sources
Alkaptonuria: Current Perspectives
The Application of Clinical Genetics, 2020 Andrea Zatkova,1 Lakshminarayan Ranganath,2 Ludevit Kadasi1,3 1Department of Human Genetics, Biomedical Research Center, Slovak Academy of Sciences, Institute of Clinical and Translational Research, Bratislava, Slovakia; 2National Alkaptonuria Centre ...
Zatkova A, Ranganath L, Kadasi L
doaj
Anopheles mosquito survival and pharmacokinetic modeling show the mosquitocidal activity of nitisinone [PDF]
One approach to interrupting the transmission of insect-borne diseases that is successfully used in veterinary medicine is exploiting the ability of antiparasitic drugs to make vertebrate blood toxic for blood-feeding insects.
Burrows, Jeremy N. +13 more
core +1 more source
A Simple Isocratic RP-HPLC Method for Determination of Nitisinone in Pharmaceuticals [PDF]
, 2019 Nitisinone is a reversible inhibitor of 4-hydroxyphenylpyruvate dioxygenase and an active substance in the orphan drug used for the treatment of hereditary tyrosinemia type I, a rare genetic disease caused by mutations in the gene for the enzyme ...
Mustafa, Zana +3 more
core +1 more source
Metabolomic changes associated with acquired resistance to Ixodes scapularis
Ticks and Tick-Borne DiseasesGuinea pigs repeatedly exposed to Ixodes scapularis develop acquired resistance to the ticks (ATR). The molecular mechanisms of ATR have not been fully elucidated, and partially involves immune responses to proteins in tick saliva.
Yingjun Cui +6 more
doaj +1 more source
Behavioral and intellectual functioning in patients with tyrosinemia type I [PDF]
Pediatric Endocrinology, Diabetes and Metabolism, 2012 Introduction: In tyrosinemia type I (TT1) increased level of tyrosine and phenylalanine (both precursors of neurotransmitters), may potentially influence patients’ cognitive development.
Agnieszka Kowalik +6 more
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Comment on: Evaluating the impact of nitisinone at mosquito-lethal doses on Lutzomyia longipalpis. [PDF]
PLoS Negl Trop DisHawkins K, Haines LR, Acosta-Serrano Á.
europepmc +1 more source
Response to comment on: Evaluating the impact of nitisinone at mosquito-lethal doses on Lutzomyia longipalpis. [PDF]
PLoS Negl Trop DisAugendre L +5 more
europepmc +1 more source