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新生儿期起病的遗传性代谢病 被引量:6

Inherited metabolic disorders in neonates
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作者 陆炜 罗小平
出处 《中国当代儿科杂志》 CAS CSCD 2005年第2期179-182,共4页 Chinese Journal of Contemporary Pediatrics
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参考文献12

  • 1Rezvani I, Rosenblatt DS. Metabolic diseases. In: Behrman RE,Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics [M]. 16th ed. Singapore: Harccourt Publishers Limited, 2000,413 -444.
  • 2Leonard JV, Morris AA. Inborn errors of metabolism around time of birth[J]. Lancet, 2000, 365(9229): 583-587.
  • 3方俊敏,王慕逖.遗传性代谢缺陷病的诊断[J].中华儿科杂志,2001,39(3):176-179. 被引量:13
  • 4Saudubray JM, Nassogne MC, de Lonlay P, Touati G. Clinical approach to inherited metabolic disorders in neonates: an overview[J]. Semin Neonatol, 2002, 7(1): 3-15.
  • 5Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis[J]. Pediatrics, 1998, 102(6): E69.
  • 6Jones PM, Bannett MJ. The changing face of newborn screening:diagnosis of inborn errors of metabolism by tandem mass spectrometry[J]. Clin Chim Acta, 2002, 324(1-2) :121 - 128.
  • 7Fu X, Iga M, Kimura M,Yamaguchi S. Simplified screening for organic acidemia using GC/MS and dried urine filter paper: a study on neonatal mass screening[J]. Early Hum Dev, 2000, 58(1): 41-55.
  • 8Charkrapani A, Cleary MA, Wraith JE. Detection of inborn errors of metabolism in the newborn [J]. Arch Dis Child Fetal Neonatal Ed, 2001, 84(3): F205-F210.
  • 9罗小平,王慕逖.遗传性代谢病的治疗[J].中华儿科杂志,2003,41(4):264-268. 被引量:11
  • 10Grompe M. The pathophysiology and treatment of hereditary tyrosinemia type I [J]. Semin Liver Dis, 2001, 21 (4): 563-571.

二级参考文献33

  • 1Kayler LK, Merion RM, Lee S, et al. Long-term survival after liver transplantation in children with metabolic disorders. Pediatr Transplant, 2002, 6: 295-300.
  • 2Aiuti A, Slavin S, Aker M, et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning.Science, 2002, 296: 2410-2413.
  • 3Cabrera-Salazar MA, Novelli E, Barranger JA. Gene therapy for the lysosomal storage disorders. Curt Opin Mol Ther, 2002, 4:349-358.
  • 4Ding EY, Hodges BL, Hu H, et al. Long-term efficacy after [El-,polymerase-] adenovirus-medlated trander of htlman acid-alpha-glucosidase gene into glycogen storage disease type Ⅱ knockout mice.Hum Gene Ther, 2001, 12: 955-965.
  • 5Lyon G, Adams RD, Koiodny EH. eds. Neurology of hereditary metabolic disease of children. 2nd ed. New York: McGraw-Hill,1996.352-363.
  • 6Scriver CR, Beaudet AL, Sly WS, et al. eds. The metabolic and molecular bases of inherited diseases. 8th ed. New York : McGraw-Hill, 2001.1-100.
  • 7Clarke JTR. ed. A clinical guide to inherited metabolic diseases. 2nd ed. Cambridge: Cambridge university Press, 2002. 255-273.
  • 8Meli C, Bianca S. Dietary control of phenylketonuria. Lancet,2002,360 : 2075-2076.
  • 9MacDonald A. Diet and compliance in phenylketonuria. Eur J Pediatr, 2000, 159 (Suppl 2) : S136-S141.
  • 10Coumley-Martin G, Bross R, Rafli M, et al. Phenylalanine requirement in children with classical phenylketonuria determined by indicator amino acid oxidation. Am J Physiol Endocrinol Metab,2002, 283 : E1249-1256.

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