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Results: 1 to 20 of 116

1.

[Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I].

Vondrácková A, Tesarová M, Magner M, Docekalová D, Chrastina P, Procházkova D, Zeman J, Honzík T.

Cas Lek Cesk. 2010;149(9):411-6. Czech.

PMID:
21117323
[PubMed - indexed for MEDLINE]
2.

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.

Imtiaz F, Rashed MS, Al-Mubarak B, Allam R, El-Karaksy H, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Meyer BF, Al-Sayed M.

Mol Genet Metab. 2011 Dec;104(4):688-90. doi: 10.1016/j.ymgme.2011.06.019. Epub 2011 Jun 30.

PMID:
21764616
[PubMed - indexed for MEDLINE]
3.

Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1.

Park HD, Lee DH, Choi TY, Lee YK, Kim JW, Ki CS, Lee YW.

Clin Chem Lab Med. 2009;47(8):930-3. doi: 10.1515/CCLM.2009.223.

PMID:
19569981
[PubMed - indexed for MEDLINE]
4.

Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.

Aponte JL, Sega GA, Hauser LJ, Dhar MS, Withrow CM, Carpenter DA, Rinchik EM, Culiat CT, Johnson DK.

Proc Natl Acad Sci U S A. 2001 Jan 16;98(2):641-5.

PMID:
11209059
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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]
6.

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]
7.

Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia.

Demers SI, Russo P, Lettre F, Tanguay RM.

Hum Pathol. 2003 Dec;34(12):1313-20.

PMID:
14691918
[PubMed - indexed for MEDLINE]
8.

The pathophysiology and treatment of hereditary tyrosinemia type 1.

Grompe M.

Semin Liver Dis. 2001 Nov;21(4):563-71. Review.

PMID:
11745044
[PubMed - indexed for MEDLINE]
9.

Hereditary tyrosinemia type 1 from a single center in Egypt: clinical study of 22 cases.

El-Karaksy H, Fahmy M, El-Raziky M, El-Koofy N, El-Sayed R, Rashed MS, El-Kiki H, El-Hennawy A, Mohsen N.

World J Pediatr. 2011 Aug;7(3):224-31. doi: 10.1007/s12519-011-0287-3. Epub 2011 Jun 1.

PMID:
21633861
[PubMed - indexed for MEDLINE]
10.

Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: recommendation for expanded newborn screening in Hong Kong.

Mak CM, Lam CW, Chim S, Siu TS, Ng KF, Tam S.

Clin Biochem. 2013 Jan;46(1-2):155-9. doi: 10.1016/j.clinbiochem.2012.09.010. Epub 2012 Sep 18.

PMID:
23000314
[PubMed - indexed for MEDLINE]
11.

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]
12.

Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.

Arranz JA, Piñol F, Kozak L, Pérez-Cerdá C, Cormand B, Ugarte M, Riudor E.

Hum Mutat. 2002 Sep;20(3):180-8.

PMID:
12203990
[PubMed - indexed for MEDLINE]
13.

Current strategies for the treatment of hereditary tyrosinemia type I.

Ashorn M, Pitkänen S, Salo MK, Heikinheimo M.

Paediatr Drugs. 2006;8(1):47-54. Review.

PMID:
16494511
[PubMed - indexed for MEDLINE]
14.

A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.

Grompe M, St-Louis M, Demers SI, al-Dhalimy M, Leclerc B, Tanguay RM.

N Engl J Med. 1994 Aug 11;331(6):353-7.

PMID:
8028615
[PubMed - indexed for MEDLINE]
Free Article
15.

Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase.

Dreumont N, Maresca A, Khandjian EW, Baklouti F, Tanguay RM.

Biochem Biophys Res Commun. 2004 Nov 5;324(1):186-92.

PMID:
15465000
[PubMed - indexed for MEDLINE]
16.

A mouse model of renal tubular injury of tyrosinemia type 1: development of de Toni Fanconi syndrome and apoptosis of renal tubular cells in Fah/Hpd double mutant mice.

Sun MS, Hattori S, Kubo S, Awata H, Matsuda I, Endo F.

J Am Soc Nephrol. 2000 Feb;11(2):291-300.

PMID:
10665936
[PubMed - indexed for MEDLINE]
Free Article
17.

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]
18.

Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.

Mohamed S, Kambal MA, Al Jurayyan NA, Al-Nemri A, Babiker A, Hasanato R, Al-Jarallah AS.

BMC Res Notes. 2013 Sep 9;6:362. doi: 10.1186/1756-0500-6-362.

PMID:
24016420
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM.

J Clin Invest. 1992 Oct;90(4):1185-92.

PMID:
1401056
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

Bergeron A, D'Astous M, Timm DE, Tanguay RM.

J Biol Chem. 2001 May 4;276(18):15225-31. Epub 2001 Jan 22.

PMID:
11278491
[PubMed - indexed for MEDLINE]
Free Article

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