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Volumn 100, Issue 8, 2015, Pages 738-741

Outcome of children with hereditary tyrosinaemia following newborn screening

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; NITISINONE; TYROSINE; ALPHA FETOPROTEIN; CYCLOHEXANONE DERIVATIVE; ENZYME INHIBITOR; FUMARYLACETOACETASE; HYDROLASE; NITROBENZOIC ACID DERIVATIVE;

EID: 84937163325     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/archdischild-2014-306886     Document Type: Article
Times cited : (39)

References (22)
  • 1
    • 84896710759 scopus 로고    scopus 로고
    • Nitisinone for the treatment of hereditary tyrosinemia type i
    • McKiernan PJ. Nitisinone for the treatment of hereditary tyrosinemia type I. Expert Opin Orphan Drugs 2013;1:491-7.
    • (2013) Expert Opin Orphan Drugs , vol.1 , pp. 491-497
    • McKiernan, P.J.1
  • 3
    • 84906550007 scopus 로고    scopus 로고
    • Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
    • Mayorandan S, Meyer U, Gokcay G, et al. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet J Rare Dis 2014;9:107.
    • (2014) Orphanet J Rare Dis , vol.9 , pp. 107
    • Mayorandan, S.1    Meyer, U.2    Gokcay, G.3
  • 4
    • 0033758431 scopus 로고    scopus 로고
    • Nontransplant treatment of tyrosinemia
    • Holme E, Lindstedt S. Nontransplant treatment of tyrosinemia. Clin Liver Dis 2000;4:805-14.
    • (2000) Clin Liver Dis , vol.4 , pp. 805-814
    • Holme, E.1    Lindstedt, S.2
  • 5
    • 13144286440 scopus 로고    scopus 로고
    • Hepatocellular carcinoma in hereditary tyrosinemia type i despite 2-(2 nitro-4-3 trifluoro-methylbenzoyl)-1, 3-cyclohexanedione treatment
    • van Spronsen FJ, Bijleveld CM, van Maldegem BT, et al. Hepatocellular carcinoma in hereditary tyrosinemia type I despite 2-(2 nitro-4-3 trifluoro-methylbenzoyl)-1, 3-cyclohexanedione treatment. J Pediatr Gastroenterol Nutr 2005;40:90-3.
    • (2005) J Pediatr Gastroenterol Nutr , vol.40 , pp. 90-93
    • Van Spronsen, F.J.1    Bijleveld, C.M.2    Van Maldegem, B.T.3
  • 6
    • 84937163130 scopus 로고    scopus 로고
    • 1-1-2013. Ref Type: Internet Communication
    • http://www.ema.europa.eu/docs/en-GB/document-library/EPAR-Product-Information/human/000555/WC500049195.pdf. 1-1-2013. Ref Type: Internet Communication
  • 7
    • 0017106109 scopus 로고
    • The occurrence of hepatoma in the chronic form of hereditary tyrosinemia
    • Weinberg AG, Mize CE, Worthen HG. The occurrence of hepatoma in the chronic form of hereditary tyrosinemia. J Pediatr 1976;88:434-8.
    • (1976) J Pediatr , vol.88 , pp. 434-438
    • Weinberg, A.G.1    Mize, C.E.2    Worthen, H.G.3
  • 8
    • 0028089988 scopus 로고
    • Hereditary tyrosinemia type I: A new clinical classification with difference in prognosis on dietary treatment
    • van Spronsen FJ, Thomasse Y, Smit GP, et al. Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology 1994;20:1187-91.
    • (1994) Hepatology , vol.20 , pp. 1187-1191
    • Van Spronsen, F.J.1    Thomasse, Y.2    Smit, G.P.3
  • 9
    • 84866148040 scopus 로고    scopus 로고
    • Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Quebec
    • Larochelle J, Alvarez F, Bussieres JF, et al. Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Quebec. Mol Genet Metab 2012;107:49-54.
    • (2012) Mol Genet Metab , vol.107 , pp. 49-54
    • Larochelle, J.1    Alvarez, F.2    Bussieres, J.F.3
  • 10
    • 33745800053 scopus 로고    scopus 로고
    • Lectin-reactive alpha-fetoprotein in patients with tyrosinemia type i and hepatocellular carcinoma
    • Baumann U, Duhme V, Auth MK, et al. Lectin-reactive alpha-fetoprotein in patients with tyrosinemia type I and hepatocellular carcinoma. J Pediatr Gastroenterol Nutr 2006;43:77-82.
    • (2006) J Pediatr Gastroenterol Nutr , vol.43 , pp. 77-82
    • Baumann, U.1    Duhme, V.2    Auth, M.K.3
  • 11
    • 0024564822 scopus 로고
    • Hereditary tyrosinemia type i (chronic form): Pathologic findings in the liver
    • Dehner LP, Snover DC, Sharp HL, et al. Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver. Hum Pathol 1989;20:149-58.
    • (1989) Hum Pathol , vol.20 , pp. 149-158
    • Dehner, L.P.1    Snover, D.C.2    Sharp, H.L.3
  • 13
    • 0020537182 scopus 로고
    • Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia
    • Hostetter MK, Levy HL, Winter HS, et al. Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia. N Engl J Med 1983;308:1265-7.
    • (1983) N Engl J Med , vol.308 , pp. 1265-1267
    • Hostetter, M.K.1    Levy, H.L.2    Winter, H.S.3
  • 14
    • 80052553877 scopus 로고    scopus 로고
    • Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1
    • De Laet C, Munoz VT, Jaeken J, et al. Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1. Dev Med Child Neurol 2011;53:962-4.
    • (2011) Dev Med Child Neurol , vol.53 , pp. 962-964
    • De Laet, C.1    Munoz, V.T.2    Jaeken, J.3
  • 15
    • 84863463607 scopus 로고    scopus 로고
    • Neurocognitive outcome in patients with hypertyrosinemia type i after long-term treatment with NTBC
    • Thimm E, Richter-Werkle R, Kamp G, et al. Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC. J Inherit Metab Dis 2012;35:263-8.
    • (2012) J Inherit Metab Dis , vol.35 , pp. 263-268
    • Thimm, E.1    Richter-Werkle, R.2    Kamp, G.3
  • 16
    • 40849102507 scopus 로고    scopus 로고
    • NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients
    • Masurel-Paulet A, Poggi-Bach J, Rolland MO, et al. NTBC treatment in tyrosinaemia type I: long-term outcome in French patients. J Inherit Metab Dis 2008;31:81-7.
    • (2008) J Inherit Metab Dis , vol.31 , pp. 81-87
    • Masurel-Paulet, A.1    Poggi-Bach, J.2    Rolland, M.O.3
  • 17
    • 84892829474 scopus 로고    scopus 로고
    • Impaired cognitive functioning in patients with tyrosinemia type i receiving nitisinone
    • Bendadi F, de Koning TJ, Visser G, et al. Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone. J Pediatr 2014;164:398-401.
    • (2014) J Pediatr , vol.164 , pp. 398-401
    • Bendadi, F.1    De Koning, T.J.2    Visser, G.3
  • 18
    • 17344383506 scopus 로고    scopus 로고
    • Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: A systematic review
    • 1-iii121
    • Pandor A, Eastham J, Beverley C, et al. Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review. Health Technol Assess 2004;8:iii, 1-iii121.
    • (2004) Health Technol Assess , vol.8 , pp. iii
    • Pandor, A.1    Eastham, J.2    Beverley, C.3
  • 19
    • 84855910495 scopus 로고    scopus 로고
    • 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, et al. 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. Anal Chem 2012;84:1184-8.
    • (2012) Anal Chem , vol.84 , pp. 1184-1188
    • La Marca, G.1    Malvagia, S.2    Materazzi, S.3
  • 20
    • 42449118446 scopus 로고    scopus 로고
    • Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots
    • Turgeon C, Magera MJ, Allard P, et al. Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots. Clin Chem 2008;54:657-64.
    • (2008) Clin Chem , vol.54 , pp. 657-664
    • Turgeon, C.1    Magera, M.J.2    Allard, P.3
  • 21
    • 79956283802 scopus 로고    scopus 로고
    • Newborn screening for tyr-i: Two years' experience of the new york state program
    • Morrissey MA, Sunny S, Fahim A, et al. Newborn screening for Tyr-I: two years' experience of the New York State program. Mol Genet Metab 2011;103:191-2.
    • (2011) Mol Genet Metab , vol.103 , pp. 191-192
    • Morrissey, M.A.1    Sunny, S.2    Fahim, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.