165 related articles for article (PubMed ID: 19569981)
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. PubMed ID: 19569981
[TBL] [Abstract][Full Text] [Related]
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; 44(3):317-23. PubMed ID: 25117105
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 23927806
[TBL] [Abstract][Full Text] [Related]
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; 98(2):641-5. PubMed ID: 11209059
[TBL] [Abstract][Full Text] [Related]
5. Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
Morrow G; Angileri F; Tanguay RM
Adv Exp Med Biol; 2017; 959():25-48. PubMed ID: 28755182
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 26565546
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 22884142
[TBL] [Abstract][Full Text] [Related]
8. A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report.
Maksimova NR; Gurinova EE; Sukhomyasova AL; Danilova AL; Kaimonov VS; Savvina MT; Yakovleva AE; Alekseeva EI
Wiad Lek; 2016; 69(2 Pt 2):295-8. PubMed ID: 27487552
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 24756054
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 23000314
[TBL] [Abstract][Full Text] [Related]
11. 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; 4():28. PubMed ID: 20003495
[TBL] [Abstract][Full Text] [Related]
12. Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.
Yang H; Al-Hertani W; Cyr D; Laframboise R; Parizeault G; Wang SP; Rossignol F; Berthier MT; Giguère Y; Waters PJ; Mitchell GA;
J Med Genet; 2017 Apr; 54(4):241-247. PubMed ID: 27876694
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 23250512
[TBL] [Abstract][Full Text] [Related]
14. Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.
Ibarra-González I; Fernández-Lainez C; Alcántara-Ortigoza MA; González-Del Angel A; Fernández-Henández L; Guillén-López S; Belmont-Martínez L; López-Mejía L; Varela-Fascinetto G; Vela-Amieva M
Mol Genet Genomic Med; 2019 Dec; 7(12):e937. PubMed ID: 31568711
[TBL] [Abstract][Full Text] [Related]
15. Tissue-specific FAH deficiency alters sleep-wake patterns and results in chronic tyrosinemia in mice.
Yang S; Siepka SM; Cox KH; Kumar V; de Groot M; Chelliah Y; Chen J; Tu B; Takahashi JS
Proc Natl Acad Sci U S A; 2019 Oct; 116(44):22229-22236. PubMed ID: 31611405
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 21764616
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 10665936
[TBL] [Abstract][Full Text] [Related]
18. Hereditary tyrosinemia type I-associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate.
Macias I; Laín A; Bernardo-Seisdedos G; Gil D; Gonzalez E; Falcon-Perez JM; Millet O
J Biol Chem; 2019 Aug; 294(35):13051-13060. PubMed ID: 31300554
[TBL] [Abstract][Full Text] [Related]
19. Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.
Giguère Y; Berthier MT
Adv Exp Med Biol; 2017; 959():139-146. PubMed ID: 28755192
[TBL] [Abstract][Full Text] [Related]
20. Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1.
Morrow G; Tanguay RM
Adv Exp Med Biol; 2017; 959():9-21. PubMed ID: 28755181
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]