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Items: 1 to 20 of 106

1.

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
2.

Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I.

Choi HJ, Bang HI, Ki CS, Lee SY, Kim JW, Song J, Shin MR, Lee YW, Lee DH, Park HD.

Ann Clin Lab Sci. 2014 Summer;44(3):317-23.

PMID:
25117105
3.

[Mutation analysis of FAH gene in patients with tyrosinemia type 1].

Dou LM, Fang LJ, Wang XH, Lu W, Chen R, Li LT, Zhao J, Wang JS.

Zhonghua Er Ke Za Zhi. 2013 Apr;51(4):302-7. Chinese.

PMID:
23927806
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.

5.

Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.

Ijaz S, Zahoor MY, Imran M, Afzal S, Bhinder MA, Ullah I, Cheema HA, Ramzan K, Shehzad W.

J Pediatr Endocrinol Metab. 2016 Mar;29(3):327-32. doi: 10.1515/jpem-2015-0289.

PMID:
26565546
6.

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
7.

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. doi: 10.1186/1750-1172-4-28.

8.

Maternal and fetal tyrosinemia type I.

Garcia Segarra N, Roche S, Imbard A, Benoist JF, Grenèche MO, Davit-Spraul A, Ogier de Baulny H.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S507-10. doi: 10.1007/s10545-012-9569-8. Epub 2012 Dec 19.

PMID:
23250512
9.
10.

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.

11.

Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1.

Haghighi-Kakhki H, Rezazadeh J, Ahmadi-Shadmehri A.

J Pediatr Endocrinol Metab. 2014 Jul;27(7-8):795-8. doi: 10.1515/jpem-2013-0489.

PMID:
24756054
12.

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
13.

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
14.

Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1.

Li L, Zhang Q, Yang H, Zou Q, Lai C, Jiang F, Zhao P, Luo Z, Yang J, Chen Q, Wang Y, Newsome PN, Frampton J, Maxwell PH, Li W, Chen S, Wang D, Siu TS, Tam S, Tse HF, Qin B, Bao X, Esteban MA, Lai L.

J Biol Chem. 2017 Mar 17;292(11):4755-4763. doi: 10.1074/jbc.M116.764787. Epub 2017 Jan 4.

15.

[Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I].

Yang N, Han LS, Ye J, Qiu WJ, Zhang HW, Gong ZW, Zhang YF, Wang Y, Gu XF.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Dec;29(6):648-52. doi: 10.3760/cma.j.issn.1003-9406.2012.06.005. Chinese.

PMID:
23225041
16.

Hereditary tyrosinemia type 1 metabolites impair DNA excision repair pathways.

van Dyk E, Steenkamp A, Koekemoer G, Pretorius PJ.

Biochem Biophys Res Commun. 2010 Oct 8;401(1):32-6. doi: 10.1016/j.bbrc.2010.09.002. Epub 2010 Sep 7.

PMID:
20828540
17.

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
18.

[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
19.

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

Dreumont N, Poudrier JA, Bergeron A, Levy HL, Baklouti F, Tanguay RM.

BMC Genet. 2001;2:9. Epub 2001 Jun 29.

20.

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

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