187 related articles for article (PubMed ID: 32936663)
1. Clinical utilization of dried blood spot nitisinone (NTBC) and succinylacetone (SA) concentrations in hereditary tyrosinaemia type 1 - A UK centre experience.
Yeo M; Turner C; Dalton NR; Rahman Y; Vara R
Ann Clin Biochem; 2020 Nov; 57(6):412-419. PubMed ID: 32936663
[TBL] [Abstract][Full Text] [Related]
2. Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day.
Kienstra NS; van Reemst HE; van Ginkel WG; Daly A; van Dam E; MacDonald A; Burgerhof JGM; de Blaauw P; McKiernan PJ; Heiner-Fokkema MR; van Spronsen FJ
J Inherit Metab Dis; 2018 Mar; 41(2):181-186. PubMed ID: 29170874
[TBL] [Abstract][Full Text] [Related]
3. Laboratory monitoring of patients with hereditary tyrosinemia type I.
Schultz MJ; Netzel BC; Singh RH; Pino GB; Gavrilov DK; Oglesbee D; Raymond KM; Rinaldo P; Tortorelli S; Smith WE; Matern D
Mol Genet Metab; 2020 Aug; 130(4):247-254. PubMed ID: 32546364
[TBL] [Abstract][Full Text] [Related]
4. LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I.
la Marca G; Malvagia S; Materazzi S; Della Bona ML; Boenzi S; Martinelli D; Dionisi-Vici C
Anal Chem; 2012 Jan; 84(2):1184-8. PubMed ID: 22148291
[TBL] [Abstract][Full Text] [Related]
5. Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC).
Sander J; Janzen N; Terhardt M; Sander S; Gökcay G; Demirkol M; Ozer I; Peter M; Das AM
Clin Chim Acta; 2011 Jan; 412(1-2):134-8. PubMed ID: 20883679
[TBL] [Abstract][Full Text] [Related]
6. Simultaneous quantification of succinylacetone and nitisinone for therapeutic drug monitoring in the treatment of Tyrosinemia type 1.
Sundberg J; Wibrand F; Lund AM; Christensen M
J Chromatogr B Analyt Technol Biomed Life Sci; 2018 Jan; 1072():259-266. PubMed ID: 29195145
[TBL] [Abstract][Full Text] [Related]
7. Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1.
Bartlett DC; Preece MA; Holme E; Lloyd C; Newsome PN; McKiernan PJ
J Inherit Metab Dis; 2013 Jan; 36(1):15-20. PubMed ID: 22456946
[TBL] [Abstract][Full Text] [Related]
8. Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study.
Spiekerkoetter U; Couce ML; Das AM; de Laet C; Dionisi-Vici C; Lund AM; Schiff M; Spada M; Sparve E; Szamosi J; Vara R; Rudebeck M
Lancet Diabetes Endocrinol; 2021 Jul; 9(7):427-435. PubMed ID: 34023005
[TBL] [Abstract][Full Text] [Related]
9. Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1.
Yilmaz O; Daly A; Pinto A; Ashmore C; Evans S; Gupte G; Santra S; Preece MA; Mckiernan P; Kitchen S; Ayhan NY; MacDonald A
Nutrients; 2020 Apr; 12(4):. PubMed ID: 32325917
[TBL] [Abstract][Full Text] [Related]
10. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
Mayorandan S; Meyer U; Gokcay G; Segarra NG; de Baulny HO; van Spronsen F; Zeman J; de Laet C; Spiekerkoetter U; Thimm E; Maiorana A; Dionisi-Vici C; Moeslinger D; Brunner-Krainz M; Lotz-Havla AS; Cocho de Juan JA; Couce Pico ML; Santer R; Scholl-Bürgi S; Mandel H; Bliksrud YT; Freisinger P; Aldamiz-Echevarria LJ; Hochuli M; Gautschi M; Endig J; Jordan J; McKiernan P; Ernst S; Morlot S; Vogel A; Sander J; Das AM
Orphanet J Rare Dis; 2014 Aug; 9():107. PubMed ID: 25081276
[TBL] [Abstract][Full Text] [Related]
11. Nitisinone treatment during two pregnancies and breastfeeding in a woman with tyrosinemia type 1 - a case report.
Zöggeler T; Ramoser G; Höller A; Jörg-Streller M; Janzen N; Ramoni A; Scholl-Bürgi S; Karall D
J Pediatr Endocrinol Metab; 2022 Feb; 35(2):259-265. PubMed ID: 34506697
[TBL] [Abstract][Full Text] [Related]
12. Tandem mass spectrometric determination of succinylacetone in dried blood spots enables presymptomatic detection in a case of hepatorenal tyrosinaemia.
Weigel JF; Janzen N; Pfäffle RW; Thiery J; Kiess W; Ceglarek U
J Inherit Metab Dis; 2007 Aug; 30(4):610. PubMed ID: 17694358
[TBL] [Abstract][Full Text] [Related]
13. Single dose NTBC-treatment of hereditary tyrosinemia type I.
Schlune A; Thimm E; Herebian D; Spiekerkoetter U
J Inherit Metab Dis; 2012 Sep; 35(5):831-6. PubMed ID: 22307209
[TBL] [Abstract][Full Text] [Related]
14. Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.
Stinton C; Geppert J; Freeman K; Clarke A; Johnson S; Fraser H; Sutcliffe P; Taylor-Phillips S
Orphanet J Rare Dis; 2017 Mar; 12(1):48. PubMed ID: 28274233
[TBL] [Abstract][Full Text] [Related]
15. Renal tubular function in children with tyrosinaemia type I treated with nitisinone.
Santra S; Preece MA; Hulton SA; McKiernan PJ
J Inherit Metab Dis; 2008 Jun; 31(3):399-402. PubMed ID: 18509744
[TBL] [Abstract][Full Text] [Related]
16. Nitisinone in the treatment of hereditary tyrosinaemia type 1.
McKiernan PJ
Drugs; 2006; 66(6):743-50. PubMed ID: 16706549
[TBL] [Abstract][Full Text] [Related]
17. [Application of succinylacetone levels measurement in the blood and urine in the diagnosis of tyrosinemia type 1].
Han LS; Ye J; Qiu WJ; Zhang HW; Wang Y; Ji WJ; Gao XL; Li XY; Jin J; Gu XF
Zhonghua Er Ke Za Zhi; 2012 Feb; 50(2):126-30. PubMed ID: 22455637
[TBL] [Abstract][Full Text] [Related]
18. Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1.
Schlump JU; Mayatepek E; Spiekerkoetter U
Eur J Pediatr; 2010 May; 169(5):569-72. PubMed ID: 19813022
[TBL] [Abstract][Full Text] [Related]
19. Outcome of children with hereditary tyrosinaemia following newborn screening.
McKiernan PJ; Preece MA; Chakrapani A
Arch Dis Child; 2015 Aug; 100(8):738-41. PubMed ID: 25564536
[TBL] [Abstract][Full Text] [Related]
20. 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.
Prieto JA; Andrade F; Lage S; Aldámiz-Echevarría L
J Chromatogr B Analyt Technol Biomed Life Sci; 2011 Apr; 879(11-12):671-6. PubMed ID: 21377430
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
