PubMed

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 articles

Liquid chromatography tandem mass spectrometry method for the quantitation of NTBC (2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione) in plasma of tyrosinemia type 1 patients.

Herebian D, Spiekerkötter U, Lamshöft M, Thimm E, Laryea M, Mayatepek E.

J Chromatogr B Analyt Technol Biomed Life Sci. 2009 May 15;877(14-15):1453-9. Epub 2009 Mar 17.PMID: 19345648 [PubMed - indexed for MEDLINE]Related articles

Neonatal presentation of a rare metabolic liver disease.

David JJ, Tullu MS, Rathi P, Sawalakhe N, Ghildiyal RG.

Trop Gastroenterol. 2008 Oct-Dec;29(4):229-31.PMID: 19323095 [PubMed - indexed for MEDLINE]Related articles

Identification of 2-[2-nitro-4-(trifluoromethyl)benzoyl]- cyclohexane-1,3-dione metabolites in urine of patients suffering from tyrosinemia type I with the use of 1H and 19F NMR spectroscopy.

Szczeciński P, Lamparska D, Gryff-Keller A, Gradowska W.

Acta Biochim Pol. 2008;55(4):749-52. Epub 2008 Nov 28.PMID: 19039335 [PubMed - indexed for MEDLINE]Related articlesFree article

Increased nitric oxide release by neutrophils of a patient with tyrosinemia type III.

D'Eufemia P, Finocchiaro R, Celli M, Raccio I, Properzi E, Zicari A.

Biomed Pharmacother. 2009 Jun;63(5):359-61. Epub 2008 Jul 9.PMID: 18657947 [PubMed - indexed for MEDLINE]Related articles

Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS.

Al-Dirbashi OY, Rashed MS, Jacob M, Al-Ahaideb LY, Al-Amoudi M, Rahbeeni Z, Al-Sayed MM, Al-Hassnan Z, Al-Owain M, Al-Zeidan H.

Biomed Chromatogr. 2008 Nov;22(11):1181-5.PMID: 18651606 [PubMed - indexed for MEDLINE]Related articles

Richner-Hanhart syndrome detected by expanded newborn screening.

Meissner T, Betz RC, Pasternack SM, Eigelshoven S, Ruzicka T, Kruse R, Laitenberger G, Mayatepek E.

Pediatr Dermatol. 2008 May-Jun;25(3):378-80.PMID: 18577048 [PubMed - indexed for MEDLINE]Related articles

Enhancing newborn screening for tyrosinemia type I.

Pass KA, Morrissey M.

Clin Chem. 2008 Apr;54(4):627-9. No abstract available. PMID: 18375485 [PubMed - indexed for MEDLINE]Related articlesFree article

Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots.

Turgeon C, Magera MJ, Allard P, Tortorelli S, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Matern D.

Clin Chem. 2008 Apr;54(4):657-64. Epub 2008 Feb 15.PMID: 18281422 [PubMed - indexed for MEDLINE]Related articlesFree article

The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.

la Marca G, Malvagia S, Pasquini E, Innocenti M, Fernandez MR, Donati MA, Zammarchi E.

Rapid Commun Mass Spectrom. 2008;22(6):812-8.PMID: 18278819 [PubMed - indexed for MEDLINE]Related articles

Gene therapy for liver enzyme deficiencies: what have we learned from models for Crigler-Najjar and tyrosinemia?

Nguyen TH, Ferry N.

Expert Rev Gastroenterol Hepatol. 2007 Oct;1(1):155-71. Review.PMID: 19072443 [PubMed - indexed for MEDLINE]Related articles

Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III.

Item CB, Mihalek I, Lichtarge O, Jalan A, Vodopiutz J, Muhl A, Bodamer OA.

Mol Genet Metab. 2007 Aug;91(4):379-83. Epub 2007 Jun 7.PMID: 17560158 [PubMed - indexed for MEDLINE]Related articles

Nitisinone: new drug. Type 1 tyrosinemia: an effective drug.

[No authors listed]

Prescrire Int. 2007 Apr;16(88):56-8.PMID: 17458044 [PubMed - indexed for MEDLINE]Related articles

"Silent" tyrosinemia presenting as hepatocellular carcinoma in a 10-year-old girl.

Castilloux J, Laberge AM, Martin SR, Lallier M, Marchand V.

J Pediatr Gastroenterol Nutr. 2007 Mar;44(3):375-7. No abstract available. PMID: 17325560 [PubMed - indexed for MEDLINE]Related articles

Unusual dendritic keratitis.

Gokhale NS, Dherai AJ, Desai H, Ashavaid TF.

Indian J Ophthalmol. 2007 Jan-Feb;55(1):57-9.PMID: 17189889 [PubMed - indexed for MEDLINE]Related articlesFree article

Effect of living donor liver transplantation on outcome of children with inherited liver disease and hepatocellular carcinoma.

Ozçay F, Canan O, Bilezikçi B, Torgay A, Karakayali H, Haberal M.

Clin Transplant. 2006 Nov-Dec;20(6):776-82.PMID: 17100729 [PubMed - indexed for MEDLINE]Related articles

Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer?

Koelink CJ, van Hasselt P, van der Ploeg A, van den Heuvel-Eibrink MM, Wijburg FA, Bijleveld CM, van Spronsen FJ.

Mol Genet Metab. 2006 Dec;89(4):310-5. Epub 2006 Sep 27.PMID: 17008115 [PubMed - indexed for MEDLINE]Related articles

Fungal metabolic model for tyrosinemia type 3: molecular characterization of a gene encoding a 4-hydroxy-phenyl pyruvate dioxygenase from Aspergillus nidulans.

da Silva Ferreira ME, Savoldi M, Sueli Bonato P, Goldman MH, Goldman GH.

Eukaryot Cell. 2006 Aug;5(8):1441-5.PMID: 16896227 [PubMed - indexed for MEDLINE]Related articlesFree article

Corneal lesion as the initial manifestation of tyrosinemia type II.

Tsai CP, Lin PY, Lee NC, Niu DM, Lee SM, Hsu WM.

J Chin Med Assoc. 2006 Jun;69(6):286-8.PMID: 16863017 [PubMed - indexed for MEDLINE]Related articlesFree article

Lectin-reactive alpha-fetoprotein in patients with tyrosinemia type I and hepatocellular carcinoma.

Baumann U, Duhme V, Auth MK, McKiernan PJ, Holme E.

J Pediatr Gastroenterol Nutr. 2006 Jul;43(1):77-82.PMID: 16819381 [PubMed - indexed for MEDLINE]Related articles