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Results: 1 to 20 of 44

Select item 231467871.

Behavioral and intellectual functioning in patients with tyrosinemia type I.

Pohorecka M, Biernacka M, Jakubowska-Winecka A, Biernacki M, Kuśmierska K, Kowalik A, Sykut-Cegielska J.

Pediatr Endocrinol Diabetes Metab. 2012;18(3):96-100.

PMID:: 23146787; [PubMed - indexed for MEDLINE]

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Select item 230363422.

Tyrosinemia Type III detected via neonatal screening: management and outcome.

Heylen E, Scherer G, Vincent MF, Marie S, Fischer J, Nassogne MC.

Mol Genet Metab. 2012 Nov;107(3):605-7. doi: 10.1016/j.ymgme.2012.09.002. Epub 2012 Sep 7.

PMID:: 23036342; [PubMed - indexed for MEDLINE]

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Select item 228850333.

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.

Larochelle J, Alvarez F, Bussières JF, Chevalier I, Dallaire L, Dubois J, Faucher F, Fenyves D, Goodyer P, Grenier A, Holme E, Laframboise R, Lambert M, Lindstedt S, Maranda B, Melançon S, Merouani A, Mitchell J, Parizeault G, Pelletier L, Phan V, Rinaldo P, Scott CR, Scriver C, Mitchell GA.

Mol Genet Metab. 2012 Sep;107(1-2):49-54. doi: 10.1016/j.ymgme.2012.05.022. Epub 2012 Jul 13.

PMID:: 22885033; [PubMed - indexed for MEDLINE]

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Select item 228841424.

Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient.

Cao YY, Zhang YL, DU J, Qu YJ, Zhong XM, Bai JL, Song F.

Chin Med J (Engl). 2012 Jun;125(12):2132-6.

PMID:: 22884142; [PubMed - indexed for MEDLINE]

Free Article

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Select item 226877405.

Hepatorenal tyrosinemia.

Kitagawa T.

Proc Jpn Acad Ser B Phys Biol Sci. 2012;88(5):192-200. Review.

PMID:: 22687740; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 225220566.

Evaluation of factors influencing accuracy in the analysis of succinylacetone in dried blood spots.

Peng M, Liu L, Peng L.

Clin Chim Acta. 2012 Aug 16;413(15-16):1265-9. doi: 10.1016/j.cca.2012.04.006. Epub 2012 Apr 12.

PMID:: 22522056; [PubMed - indexed for MEDLINE]

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Select item 225214927.

Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine.

Metz TF, Mechtler TP, Merk M, Gottschalk A, Lukačin R, Herkner KR, Kasper DC.

Clin Chim Acta. 2012 Aug 16;413(15-16):1259-64. doi: 10.1016/j.cca.2012.04.007. Epub 2012 Apr 12.

PMID:: 22521492; [PubMed - indexed for MEDLINE]

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Select item 225114878.

Simple and fast quantification of nitisone (NTBC) using liquid chromatography-tandem mass spectrometry method in plasma of tyrosinemia type 1 patients.

Davit-Spraul A, Romdhane H, Poggi-Bach J.

J Chromatogr Sci. 2012 May;50(5):446-9. doi: 10.1093/chromsci/bms022.

PMID:: 22511487; [PubMed - indexed for MEDLINE]

Free Article

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Select item 224950349.

Confocal microscopy of corneal crystals in a patient with hereditary tyrosinemia type I, treated with NTBC.

Schauwvlieghe PP, Jaeken J, Kestelyn P, Claerhout I.

Cornea. 2013 Jan;32(1):91-4. doi: 10.1097/ICO.0b013e318243e474.

PMID:: 22495034; [PubMed - indexed for MEDLINE]

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Select item 2238999410.

Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion.

Iskeleli G, Bilgeç MD, Arici C, Atalay E, Oğreden T, Aydin A.

Turk J Pediatr. 2011 Nov-Dec;53(6):692-4.

PMID:: 22389994; [PubMed - indexed for MEDLINE]

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Select item 2231160011.

Tyrosine impairs enzymes of energy metabolism in cerebral cortex of rats.

de Andrade RB, Gemelli T, Rojas DB, Funchal C, Dutra-Filho CS, Wannmacher CM.

Mol Cell Biochem. 2012 May;364(1-2):253-61. doi: 10.1007/s11010-012-1225-y. Epub 2012 Feb 5.

PMID:: 22311600; [PubMed - indexed for MEDLINE]

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Select item 2230720912.

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. doi: 10.1007/s10545-012-9450-9. Epub 2012 Feb 4.

PMID:: 22307209; [PubMed - indexed for MEDLINE]

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Select item 2220998413.

Impaired DNA repair and genomic stability in hereditary tyrosinemia type 1.

van Dyk E, Pretorius PJ.

Gene. 2012 Mar 1;495(1):56-61. doi: 10.1016/j.gene.2011.12.021. Epub 2011 Dec 23.

PMID:: 22209984; [PubMed - indexed for MEDLINE]

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Select item 2216727714.

Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.

Schiff M, Broue P, Chabrol B, De Laet C, Habes D, Mention K, Sarles J, Spraul A, Valayannopoulos V, Ogier de Baulny H; French-Belgian study group for HT-1.

J Inherit Metab Dis. 2012 Sep;35(5):823-9. doi: 10.1007/s10545-011-9429-y. Epub 2011 Dec 14.

PMID:: 22167277; [PubMed - indexed for MEDLINE]

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Select item 2214829115.

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 17;84(2):1184-8. doi: 10.1021/ac202695h. Epub 2011 Dec 29.

PMID:: 22148291; [PubMed - indexed for MEDLINE]

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Select item 2214551616.

Long-term outcome of living donor liver transplantation in a Thai boy with hereditary tyrosinemia type I: a case report.

Jitraruch S, Treepongkaruna S, Teeraratkul S, Wattanasirichaigoon D, Leelaudomlipi S, Sornmayura P, Viengteerawat S, Sriphojanart S.

J Med Assoc Thai. 2011 Oct;94(10):1276-80.

PMID:: 22145516; [PubMed - indexed for MEDLINE]

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Select item 2200244317.

Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 - a hypothesis.

van Dyk E, Pretorius PJ.

J Inherit Metab Dis. 2012 May;35(3):407-11. doi: 10.1007/s10545-011-9401-x. Epub 2011 Oct 15.

PMID:: 22002443; [PubMed - indexed for MEDLINE]

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Select item 2178956518.

Tyrosine inhibits creatine kinase activity in cerebral cortex of young rats.

de Andrade RB, Gemelli T, Rojas DB, Funchal C, Dutra-Filho CS, Wannmacher CM.

Metab Brain Dis. 2011 Sep;26(3):221-7. doi: 10.1007/s11011-011-9255-9. Epub 2011 Jul 26.

PMID:: 21789565; [PubMed - indexed for MEDLINE]

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Select item 2176580219.

Generation of healthy mice from gene-corrected disease-specific induced pluripotent stem cells.

Wu G, Liu N, Rittelmeyer I, Sharma AD, Sgodda M, Zaehres H, Bleidissel M, Greber B, Gentile L, Han DW, Rudolph C, Steinemann D, Schambach A, Ott M, Schöler HR, Cantz T.

PLoS Biol. 2011 Jul;9(7):e1001099. doi: 10.1371/journal.pbio.1001099. Epub 2011 Jul 12.

PMID:: 21765802; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2175215220.

Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome.

Couce ML, Dalmau J, del Toro M, Pintos-Morell G, Aldámiz-Echevarría L; Spanish Working Group on Tyrosinemia type 1.

Pediatr Int. 2011 Dec;53(6):985-9. doi: 10.1111/j.1442-200X.2011.03427.x.

PMID:: 21752152; [PubMed - indexed for MEDLINE]

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3 free full-text articles in PubMed Central

Review Hepatorenal tyrosinemia. [Proc Jpn Acad Ser B Phys Biol ...]
Review Hepatorenal tyrosinemia.
Kitagawa T. Proc Jpn Acad Ser B Phys Biol Sci. 2012; 88(5):192-200.
Generation of healthy mice from gene-corrected disease-specific induced pluripotent stem cells. [PLoS Biol. 2011]
Generation of healthy mice from gene-corrected disease-specific induced pluripotent stem cells.
Wu G, Liu N, Rittelmeyer I, Sharma AD, Sgodda M, Zaehres H, Bleidissel M, Greber B, Gentile L, Han DW, et al. PLoS Biol. 2011 Jul; 9(7):e1001099. Epub 2011 Jul 12.
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. [Orphanet J Rare Dis. 2009]
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
Cassiman D, Zeevaert R, Holme E, Kvittingen EA, Jaeken J. Orphanet J Rare Dis. 2009 Dec 15; 4:28. Epub 2009 Dec 15.

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