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Items: 1 to 20 of 159

1.

[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
2.

[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
3.

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.

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.

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
6.

Tyrosinemia: a report of three cases from India.

Shah I.

Indian J Gastroenterol. 2013 Mar;32(2):123-6. doi: 10.1007/s12664-012-0300-3. Epub 2013 Feb 14.

PMID:
23408258
7.

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
8.

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.

9.

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
10.

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
11.

[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. Chinese.

PMID:
22455637
12.

Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.

St-Louis M, Leclerc B, Laine J, Salo MK, Holmberg C, Tanguay RM.

Hum Mol Genet. 1994 Jan;3(1):69-72.

PMID:
8162054
13.

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
14.

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
15.
16.

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
17.
18.

Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.

Rootwelt H, Kristensen T, Berger R, Høie K, Kvittingen EA.

Hum Genet. 1994 Sep;94(3):235-9.

PMID:
8076937
19.

Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.

Elpeleg ON, Shaag A, Holme E, Zughayar G, Ronen S, Fisher D, Hurvitz H.

Hum Mutat. 2002 Jan;19(1):80-1.

PMID:
11754109
20.

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