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先天性中枢性低通气综合征5例 被引量:1

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出处 《广州医学院学报》 2007年第5期59-61,共3页 Academic Journal of Guangzhou Medical College
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参考文献9

  • 1Gozal D,Marcus CL,Shoseyov D,et al.Peripheral chemoreceptor function in children with the congenital central hypoventilation syndrome[J].J APPL Physid,1993,74 (3):379-387.
  • 2Mellins RB,Balfour HH Jr,Turino Gm,et al.Failure of automatic control of ventilation (Ondine's curse).Report of an infant born with this syndrome and review of the literature[J].Medicine (Baltimore),1970,49 (6):487-504.
  • 3Croaker GDH,Shi E,Simpson E,et al.Congenital central hypoventilation syndrome and Hirschsprung's disease[J].Arch Dis Child,1998,78 (3):316-322.
  • 4Cutz E,Ma KF,Perrin DG.Peripheral chemoreceptors in congenital central hypoventilation syndrome[J].AM J Respir Crit Care Med,1997,155 (1):358-363.
  • 5Child F,Couriel J.The control of breathing with reference to congenital central hypoventilation syndrome[J].J R Soc Med,1998,91 (9):479-483.
  • 6Fleming P J,Cade D,Bryan M H,et al.Congenital central hypoventilation and sleep state[J].Pediatr,1980,66 (4):425-428.
  • 7Southall DP,Samuels MP,Talbert DG.Recurrent cyanotic episodes with severe arterial hypoxemia and intrapulmonary shunting:a mechanism for sudden impend death[J].Arc Dis Child,1990,65 (9):953-961.
  • 8陈克正.疑难病研究——我国首例先天性中枢性低通气综合征的诊治[J].中国当代儿科杂志,2004,6(1):42-45. 被引量:23
  • 9高晓燕.先天性中枢性低通气综合征[J].小儿急救医学,2003,10(5):328-330. 被引量:7

二级参考文献28

  • 1Mellins RB, Balfour HH Jr, Turino Gin, et al. Failure of automatic control of ventilation (Ondine' s curse). Report of an infant born with this syndrome and review of the literature[J]. Medicine(Baltimore), 1970, 49 ( 6 ) :487-504.
  • 2Croaker GDH, Shl E, Simpson E, et al. Congenital centnd hypoventilaion syndrome and Hirschsprung' s disease [J]. Arch Dis Child, 1998, 78: 316- 322.
  • 3Sakai T, Wakizaka A, Matsuda H, et al. Point mutation in exon 12 of the receptor tyrosine klnase proto-oncogene RET in Ondine-Hirschsprung syndrome[J]. Pediatr, 1998, 101: 924-926.
  • 4Burton MD, Kawashima A, Brayer JA, et al. RET proto-oncogene is important for the development of respiratory CO2 sensitivity [J]. Autonomic Nerv Syst, 1997, 63:137-143.
  • 5Bolk S, Angrist M, Xie J, et al, Endothelin-3 frarneshift mutation in congenital central hypoventilation syndrome[J]. Nat Genet, 1996, 13:395 - 396.
  • 6Shirasawa S Arata A, Onimare H, et al. Rnx deficiency results in congenital central hypoventilation [ J ], Nat Genet, 2000, 24 (3) : 287-290.
  • 7Weese-Mayer DE, Silvestri JM, Huffman AD, et al. Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventiliation syndrome[J] .Am J Med Genet, 2001, 100(3) :237-245.
  • 8Sritippayaman S, Hamutcu R, Kun SS, et al. Mother-daughter transmission of congenital central hypoventilation syndrome[J]. Am J Respir Crit Care. Med, 2002; 166(3) :367-369.
  • 9Folgering HF, Kille JF, Primary alveolar hypoventilation ( Ondine's curse syndrome)in an infant without external arcuate nucleus: case report [J]. Bull Eur Physilpathol. Respir, 1979, 15:659-665.
  • 10Fleming P J, Cade D, Bryan M H, et al. Congential central hypoventilation and sleep state [J]. Pediatr, 1980, 66:425- 428.

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