PubMed

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.PMID: 20003495 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

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.PMID: 11209059 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

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.PMID: 19569981 [PubMed - indexed for MEDLINE]Related citations

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.PMID: 8005583 [PubMed - indexed for MEDLINE]Related citations

Hereditary tyrosinemia type I--an overview.

Kvittingen EA.

Scand J Clin Lab Invest Suppl. 1986;184:27-34. Review.PMID: 3296130 [PubMed - indexed for MEDLINE]Related citations

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.PMID: 7929843 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

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.PMID: 3473612 [PubMed - indexed for MEDLINE]Related citations

The genetic tyrosinemias.

Scott CR.

Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):121-6. Review.PMID: 16602095 [PubMed - indexed for MEDLINE]Related citations

Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.

Rüetschi U, Cerone R, Pérez-Cerda C, Schiaffino MC, Standing S, Ugarte M, Holme E.

Hum Genet. 2000 Jun;106(6):654-62.PMID: 10942115 [PubMed - indexed for MEDLINE]Related citations

Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosine.

Wadman SK, Duran M, Ketting D, Bruinvis L, van Sprang FJ, Berger R, Smit GP, Steinmann B, Leonard JV, Divry P, Farriaux JP, Cartigny B.

Clin Chim Acta. 1983 May 30;130(2):231-8.PMID: 6872257 [PubMed - indexed for MEDLINE]Related citations

Urinary excretion of succinylacetone and delta-aminolevulinic acid in patients with hereditary tyrosinemia.

Christensen E, Jacobsen BB, Gregersen N, Hjeds H, Pedersen JB, Brandt NJ, Baekmark UB.

Clin Chim Acta. 1981 Nov 11;116(3):331-41.PMID: 7296896 [PubMed - indexed for MEDLINE]Related citations

Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia.

Berger R, Smit GP, Stoker-de Vries SA, Duran M, Ketting D, Wadman SK.

Clin Chim Acta. 1981 Jul 18;114(1):37-44.PMID: 7249373 [PubMed - indexed for MEDLINE]Related citations

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.PMID: 11476670 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

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.PMID: 1401056 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

Animal models of tyrosinemia.

Nakamura K, Tanaka Y, Mitsubuchi H, Endo F.

J Nutr. 2007 Jun;137(6 Suppl 1):1556S-1560S; discussion 1573S-1575S. Review.PMID: 17513424 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase.

Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B.

Lancet. 1992 Oct 3;340(8823):813-7.PMID: 1383656 [PubMed - indexed for MEDLINE]Related citations

Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

Rootwelt H, Brodtkorb E, Kvittingen EA.

Am J Hum Genet. 1994 Dec;55(6):1122-7.PMID: 7977370 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I.

Awata H, Endo F, Tanoue A, Kitano A, Nakano Y, Matsuda I.

Biochim Biophys Acta. 1994 May 25;1226(2):168-72.PMID: 8204664 [PubMed - indexed for MEDLINE]Related citations

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 [PubMed - indexed for MEDLINE]Related citations

Tyrosinemia type I: a clinico-laboratory case report.

Karnik D, Thomas N, Eapen CE, Jana AK, Oommen A.

Indian J Pediatr. 2004 Oct;71(10):929-32.PMID: 15531838 [PubMed - indexed for MEDLINE]Related citations