187 related articles for article (PubMed ID: 35242570)
1. Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (
Sikonja J; Brecelj J; Zerjav Tansek M; Repic Lampret B; Drole Torkar A; Klemencic S; Lipovec N; Stefanova Kralj V; Bertok S; Kovac J; Faganel Kotnik B; Tesarova M; Remec ZI; Debeljak M; Battelino T; Groselj U
Mol Genet Metab Rep; 2022 Mar; 30():100836. PubMed ID: 35242570
[TBL] [Abstract][Full Text] [Related]
2. Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient
Yang H; Rossignol F; Cyr D; Laframboise R; Wang SP; Soucy JF; Berthier MT; Giguère Y; Waters PJ; Mitchell GA;
Mol Genet Metab Rep; 2018 Mar; 14():55-58. PubMed ID: 29326876
[TBL] [Abstract][Full Text] [Related]
3. Diagnosis and the importance of early treatment of tyrosinemia type 1: A case report.
Škaričić A; Zekušić M; Fumić K; Rogić D; Uroić V; Petković Ramadža D; Žigman T; Barić I
Clin Mass Spectrom; 2019 Apr; 12():1-6. PubMed ID: 34841073
[TBL] [Abstract][Full Text] [Related]
4. A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood.
Rokaitė R; Čibirkaitė A; Zeleckytė V; Lazdinytė G; Dženkaitis M
Medicina (Kaunas); 2024 Jan; 60(1):. PubMed ID: 38256395
[TBL] [Abstract][Full Text] [Related]
5. A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity.
Kawabata K; Kido J; Yoshida T; Matsumoto S; Nakamura K
Mol Genet Metab Rep; 2022 Sep; 32():100892. PubMed ID: 35800472
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening.
Hajji H; Imbard A; Spraul A; Taibi L; Barbier V; Habes D; Brassier A; Arnoux JB; Bouchereau J; Pichard S; Sissaoui S; Lacaille F; Girard M; Debray D; de Lonlay P; Schiff M
Mol Genet Metab Rep; 2022 Dec; 33():100933. PubMed ID: 36393896
[TBL] [Abstract][Full Text] [Related]
8. The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening.
Priestley JRC; Alharbi H; Callahan KP; Guzman H; Payan-Walters I; Smith L; Ficicioglu C; Ganetzky RD; Ahrens-Nicklas RC
Int J Neonatal Screen; 2020 Jun; 6(2):. PubMed ID: 32832707
[TBL] [Abstract][Full Text] [Related]
9. Experience of a Single Center in NTBC Use in Management of Hereditary Tyrosinemia Type I in Libya.
Alobaidy H; Barkaoui E
Iran J Pediatr; 2015 Oct; 25(5):e3608. PubMed ID: 26495099
[TBL] [Abstract][Full Text] [Related]
10. Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype.
Neuckermans J; Lequeue S; Claes P; Heymans A; Hughes JH; Colemonts-Vroninks H; Marcélis L; Casimir G; Goyens P; Martens GA; Gallagher JA; Vanhaecke T; Bou-Gharios G; De Kock J
Genes (Basel); 2023 Mar; 14(3):. PubMed ID: 36980965
[TBL] [Abstract][Full Text] [Related]
11. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
Couce ML; Sánchez-Pintos P; Aldámiz-Echevarría L; Vitoria I; Navas V; Martín-Hernández E; García-Volpe C; Pintos G; Peña-Quintana L; Hernández T; Gil D; Sánchez-Valverde F; Bueno M; Roca I; López-Ruzafa E; Díaz-Fernández C
Medicine (Baltimore); 2019 Sep; 98(39):e17303. PubMed ID: 31574857
[TBL] [Abstract][Full Text] [Related]
12. 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; 292(11):4755-4763. PubMed ID: 28053091
[TBL] [Abstract][Full Text] [Related]
13. Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1.
Dweikat I; Qawasmi N; Najeeb A; Radwan M
Metabol Open; 2021 Mar; 9():100083. PubMed ID: 33598652
[TBL] [Abstract][Full Text] [Related]
14. Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1.
Chen J; Sun J; Li X; Du M
BMC Med Genomics; 2022 Dec; 15(1):251. PubMed ID: 36463171
[TBL] [Abstract][Full Text] [Related]
15. Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
Angileri F; Bergeron A; Morrow G; Lettre F; Gray G; Hutchin T; Ball S; Tanguay RM
JIMD Rep; 2015; 19():43-58. PubMed ID: 25681080
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 22885033
[TBL] [Abstract][Full Text] [Related]
17. 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; 84(2):1184-8. PubMed ID: 22148291
[TBL] [Abstract][Full Text] [Related]
18. Oxidative Stress, Glutathione Metabolism, and Liver Regeneration Pathways Are Activated in Hereditary Tyrosinemia Type 1 Mice upon Short-Term Nitisinone Discontinuation.
Colemonts-Vroninks H; Neuckermans J; Marcelis L; Claes P; Branson S; Casimir G; Goyens P; Martens GA; Vanhaecke T; De Kock J
Genes (Basel); 2020 Dec; 12(1):. PubMed ID: 33375092
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
