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Volumn 5, Issue , 2012, Pages 27-33

Pregnancy during nitisinone treatment for tyrosinaemia type I: First human experience

Author keywords

Amino acid mixture; Autosomal recessive disease; Fanconi syndrome; Fetal plasma; Phenylalanine level

Indexed keywords


EID: 84889634010     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2011_88     Document Type: Chapter
Times cited : (21)

References (9)
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    • Simple and fast quantification of nitisone (NTBC) using liquid chromatography tandem mass spectrometry method in plasma of tyrosinemia type 1 patients
    • in press
    • Davit-Spraul A, Rhomdame H, Poggi-Bach J (2011) Simple and fast quantification of nitisone (NTBC) using liquid chromatography tandem mass spectrometry method in plasma of tyrosinemia type 1 patients. J Chromatogr Sci (in press).
    • (2011) J Chromatogr Sci
    • Davit-Spraul, A.1    Rhomdame, H.2    Poggi-Bach, J.3
  • 4
    • 0026517025 scopus 로고
    • Maternal tyrosinaemia II: Management and successful outcome
    • Francis DE, Kirby DM, Thompson GN (1992) Maternal tyrosinaemia II: management and successful outcome. Eur J Pediatr 151:196–9
    • (1992) Eur J Pediatr , vol.151 , pp. 196-199
    • Francis, D.E.1    Kirby, D.M.2    Thompson, G.N.3
  • 5
    • 0035196687 scopus 로고    scopus 로고
    • The pathophysiology and treatment of hereditary tyrosinemia type 1
    • Grompe M (2001) The pathophysiology and treatment of hereditary tyrosinemia type 1. Semin Liver Dis 21:563–571
    • (2001) Semin Liver Dis , vol.21 , pp. 563-571
    • Grompe, M.1
  • 6
    • 0004020471 scopus 로고    scopus 로고
    • Disorder of tyrosine metabolism
    • Fernandes J, Saudubray JM, Van den Berghe G, Springer, Germany
    • Kvittingen EA, Holme E (2000) Disorder of tyrosine metabolism. In: Fernandes J, Saudubray JM, Van den Berghe G (eds) Inborn metabolic diseases, diagnosis and treatment. Springer, Germany, pp 186–194
    • (2000) Inborn Metabolic Diseases, Diagnosis and Treatment , pp. 186-194
    • Kvittingen, E.A.1    Holme, E.2
  • 8
  • 9
    • 33646524557 scopus 로고    scopus 로고
    • The genetic tyrosinemias
    • Scott CR (2006) The genetic tyrosinemias. Am J Med Genet C 142C:121–126
    • (2006) Am J Med Genet C , vol.142C , pp. 121-126
    • Scott, C.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.