218 related articles for article (PubMed ID: 7929843)
1. Self-induced correction of the genetic defect in tyrosinemia type I.
Kvittingen EA; Rootwelt H; Berger R; Brandtzaeg P
J Clin Invest; 1994 Oct; 94(4):1657-61. PubMed ID: 7929843
[TBL] [Abstract][Full Text] [Related]
2. Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
Kvittingen EA; Rootwelt H; Brandtzaeg P; Bergan A; Berger R
J Clin Invest; 1993 Apr; 91(4):1816-21. PubMed ID: 8473520
[TBL] [Abstract][Full Text] [Related]
3. Hereditary tyrosinemia type I--an overview.
Kvittingen EA
Scand J Clin Lab Invest Suppl; 1986; 184():27-34. PubMed ID: 3296130
[TBL] [Abstract][Full Text] [Related]
4. Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.
Poudrier J; Lettre F; Scriver CR; Larochelle J; Tanguay RM
Mol Genet Metab; 1998 Jun; 64(2):119-25. PubMed ID: 9705236
[TBL] [Abstract][Full Text] [Related]
5. Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
Bergman AJ; van den Berg IE; Brink W; Poll-The BT; Ploos van Amstel JK; Berger R
Hum Mutat; 1998; 12(1):19-26. PubMed ID: 9633815
[TBL] [Abstract][Full Text] [Related]
6. Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
Grompe M; al-Dhalimy M
Hum Mutat; 1993; 2(2):85-93. PubMed ID: 8318997
[TBL] [Abstract][Full Text] [Related]
7. Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein.
Kvittingen EA; Rootwelt H; van Dam T; van Faassen H; Berger R
Pediatr Res; 1992 Jan; 31(1):43-6. PubMed ID: 1594329
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 1401056
[TBL] [Abstract][Full Text] [Related]
9. The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetase.
Kvittingen EA; Brodtkorb E
Scand J Clin Lab Invest Suppl; 1986; 184():35-40. PubMed ID: 3473612
[TBL] [Abstract][Full Text] [Related]
10. Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.
Rootwelt H; Chou J; Gahl WA; Berger R; Coşkun T; Brodtkorb E; Kvittingen EA
Hum Genet; 1994 Jun; 93(6):615-9. PubMed ID: 8005583
[TBL] [Abstract][Full Text] [Related]
11. Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.
Bliksrud YT; Brodtkorb E; Andresen PA; van den Berg IE; Kvittingen EA
J Mol Med (Berl); 2005 May; 83(5):406-10. PubMed ID: 15759101
[TBL] [Abstract][Full Text] [Related]
12. Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
Hahn SH; Krasnewich D; Brantly M; Kvittingen EA; Gahl WA
Hum Mutat; 1995; 6(1):66-73. PubMed ID: 7550234
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 8162054
[TBL] [Abstract][Full Text] [Related]
14. Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
St-Louis M; Tanguay RM
Hum Mutat; 1997; 9(4):291-9. PubMed ID: 9101289
[TBL] [Abstract][Full Text] [Related]
15. Correction of fumarylacetoacetate hydrolase deficiency (type I tyrosinemia) in cultured human fibroblasts by retroviral-mediated gene transfer.
Phaneuf D; Hadchouel M; Tanguay RM; Bréchot C; Ferry N
Biochem Biophys Res Commun; 1995 Mar; 208(3):957-63. PubMed ID: 7702626
[TBL] [Abstract][Full Text] [Related]
16. Tyrosinemia: the Quebec experience.
Paradis K
Clin Invest Med; 1996 Oct; 19(5):311-6. PubMed ID: 8889268
[TBL] [Abstract][Full Text] [Related]
17. Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.
Labelle Y; Phaneuf D; Leclerc B; Tanguay RM
Hum Mol Genet; 1993 Jul; 2(7):941-6. PubMed ID: 8364576
[TBL] [Abstract][Full Text] [Related]
18. 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; 331(6):353-7. PubMed ID: 8028615
[TBL] [Abstract][Full Text] [Related]
19. Rapid nonradioactive assay for the detection of the common French Canadian tyrosinemia type I mutation.
Grompe M; al-Dhalimy M
Hum Mutat; 1995; 5(1):105. PubMed ID: 7728147
[No Abstract] [Full Text] [Related]
20. Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).
Tanguay RM; Valet JP; Lescault A; Duband JL; Laberge C; Lettre F; Plante M
Am J Hum Genet; 1990 Aug; 47(2):308-16. PubMed ID: 2378356
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
