尼替西农
尼替西农结构式
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常用名 | 尼替西农 | 英文名 | Nitisinone |
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| CAS号 | 104206-65-7 | 分子量 | 329.228 | |
| 密度 | 1.5±0.1 g/cm3 | 沸点 | 486.2±45.0 °C at 760 mmHg | |
| 分子式 | C14H10F3NO5 | 熔点 | 129-131°C | |
| MSDS | 中文版 美版 | 闪点 | 247.9±28.7 °C |
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Generation of healthy mice from gene-corrected disease-specific induced pluripotent stem cells.
PLoS Biol. 9(7) , e1001099, (2011) Using the murine model of tyrosinemia type 1 (fumarylacetoacetate hydrolase [FAH] deficiency; FAH⁻/⁻ mice) as a paradigm for orphan disorders, such as hereditary metabolic liver diseases, we evaluated fibroblast-derived FAH⁻/⁻-induced pluripotent stem cells (... |
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Serum markers in alkaptonuria: simultaneous analysis of homogentisic acid, tyrosine and nitisinone by liquid chromatography tandem mass spectrometry.
Ann. Clin. Biochem. 52 , 597-605, (2015) Alkaptonuria is a rare debilitating autosomal recessive disorder of tyrosine metabolism, where deficiency of homogentisate 1,2-dioxygenase results in increased homogentisic acid. Homogentisic acid is deposited as an ochronotic pigment in connective tissues, e... |
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A misguided 'pill in the pocket' approach with flecainide leading to cardiac arrest.
BMJ Case Rep. 2012 , doi:10.1136/bcr-2012-006868, (2012)
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Single dose NTBC-treatment of hereditary tyrosinemia type I.
J. Inherit. Metab. Dis. 35(5) , 831-6, (2012) NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3cyclohexanedione) is the mainstay of treatment in tyrosinemia type 1 (HT 1). The current recommendation is to divide the total daily dose of NTBC into two doses. We monitored the plasma NTBC concentrations in a se... |
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Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I.
Mol. Genet. Metab. 102(2) , 122-5, (2011) Psychomotor impairment has been described in hypertyrosinemia types II and III (HT III). Only recently cognitive deficits have also been reported in hypertyrosinemia type I (HT I). The pathogenic mechanisms responsible are unknown. Since implementation of 2-(... |
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Simple and fast quantification of nitisone (NTBC) using liquid chromatography-tandem mass spectrometry method in plasma of tyrosinemia type 1 patients.
J. Chromatogr. Sci. 50(5) , 446-9, (2012) Tyrosinemia type 1, which is caused by a deficiency in fumarylacetoacetate hydrolase, is successfully treatable with nitisone (NTBC), an inhibitor of 4-hydroxyphenyl pyruvate dioxygenase. The recommended average dose of NTBC is 1 mg/kg per day. A rapid liquid... |
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Natural history of alkaptonuria revisited: analyses based on scoring systems.
J. Inherit. Metab. Dis. 34(6) , 1141-51, (2011) Increased circulating homogentisic acid in body fluids occurs in alkaptonuria (AKU) due to lack of enzyme homogentisate dioxygenase leading in turn to conversion of HGA to a pigmented melanin-like polymer, known as ochronosis. The tissue damage in AKU is due ... |
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A quantitative assessment of alkaptonuria: testing the reliability of two disease severity scoring systems.
J. Inherit. Metab. Dis. 34(6) , 1153-62, (2011) Alkaptonuria (AKU) is due to excessive homogentisic acid accumulation in body fluids due to lack of enzyme homogentisate dioxygenase leading in turn to varied clinical manifestations mainly by a process of conversion of HGA to a polymeric melanin-like pigment... |
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Comparison of plasma and dry blood spots as samples for the determination of nitisinone (NTBC) by high-performance liquid chromatography-tandem mass spectrometry. Study of the stability of the samples at different temperatures.
J. Chromatogr. B. Analyt. Technol. Biomed. Life Sci. 879(11-12) , 671-6, (2011) Tyrosinemia is an inborn error of metabolism characterized by the accumulation of tyrosine as well as toxic by-products. NTBC or nitisinone is a drug currently used for the treatment of tyrosinemia that avoids the formation of these toxic substances. This pap... |
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Hereditary tyrosinemia type 1 from a single center in Egypt: clinical study of 22 cases.
World J. Pediatr. 7(3) , 224-31, (2011) Hereditary tyrosinemia type 1 (HT1) is an increasingly recognized inborn error of metabolism among Egyptian children. This study was undertaken to define the presenting clinical, biochemical and imaging features and outcome of 2-(2-motrp-4-trifluoromethylbenz... |