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Krabbe病一例 被引量：9

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摘要 患儿男，4个月，主因头控不稳1个月余就诊。1个月前家长发现忠儿逐渐不能抬头，能注视，但追视不能，对声音反位不敏感，易哭闹激惹，哭闹时身体强直、大后仰，偶有下肢痒挛样抖动。
作者 任晓暾 杨尧 王春枝 何玺玉 封志纯
机构地区 北京军区总医院附属八一儿童医院临床遗传中心
出处 《中华儿科杂志》 CAS CSCD 北大核心 2013年第1期69-70,共2页 Chinese Journal of Pediatrics
基金 中国博士后科学基金面上项目（201150M1564）
关键词 哭闹 Krabbe病 头控不稳 追视不能
分类号 R722.11 [医药卫生—儿科]
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参考文献10

  • 1Chen YQ, Raft MA, de Gala G, et al. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum Mol Genet, 1993, 2: 1841-1845.
  • 2Zlotogora J, Regev R, Zeigler M, et al. Krabbe disease: increased incidence in a highly inbred community. Am J Med Genet, 1985, 21 : 765-770.
  • 3Wenger DA, Suzuki K, Yoshiuyki S, et al. Galactosylceramide lipidosis: gloiboid cell leukodystrophy (Krabbe disease)// Scriver CR, Sly WS, Childs B, eds. The metabolic and molecular bases of inherited disease, 8th ed. New York: McGraw-Hill, 2001: 3669-3694.
  • 4Tappino B, Biancheri R, Mort M, et al. Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Hum Murat, 2010,31 : 1894-1914.
  • 5Fiumara A, Barone R, Arena A, et al. Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c. 121G > A ( p. Gly41Ser) mutation. Clin Genet, 2011, 80:452-458.
  • 6Duffner PK, Barczykowski A, Jalal K, et al. Early infantile Krabbe disease: results of the World-Wide Krabbe Registry. Pediatr Neurol, 2011, 45:141-148.
  • 7Giancarlola M, Bruno C, Sabrina M, et al. New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry. Anal Chem, 2009, 81: 6113-6121.
  • 8Stenson PD, Mort M, Ball E, et al. The Human Gene Mutation Database: 2008 update. Genome Med, 2009, 1:13.
  • 9Lee WC, Tsoi YK, Troendle FJ, et al. Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy. FASEB J, 2007, 21:2520-2527.
  • 10Escolar ML, Poe MD, Provenzale JM, et al. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease . N Engl J Med, 2005, 352: 2069-2081.

同被引文献67

  • 1秦亚丽,訾迎新,冀美琦,项占梅,金明.针药结合治疗青少年型Krabbe病伴发的视神经萎缩1例[J].中国中医眼科杂志,2020,0(1):56-59. 被引量：2
  • 2刘广宣,付明耀,张炳仁,李经才,徐峰.环磷酰胺药效、副作用和药物动力学依时特征[J].中国优生与遗传杂志,2004,12(S1):3-5. 被引量：4
  • 3Bemardi B, Fonda C, Franzoni E, et al. MRI and CT in Krabbe's disease: case report [J]. Neuroradiology, 1994, 36(6) : 477-479.
  • 4Suzuki K. Globoid cell leukodystrophy (Krabbe's disease) : update [J]. J ChildNeurol, 2003, 18(9): 595-603.
  • 5Igisu H, Suzuki K. Progressive accumulation of toxic me- tabolite in a genetic leukodystrophy [J]. Science, 1984, 224(4650): 753-755.
  • 6Tappino B, Biancheri R, Mort M, et al. Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease [J]. Hum Mutat, 2010, 31(12):E1894-E1914.
  • 7Deane JE, Graham SC, Kim NN, et al. Insights into Krabbe disease from structures of galactocerebrosidase [J]. Proc Natl Aead Sci U S A, 2011, 108(37):15169-15173.
  • 8叶露梅,施惠平,张为民,等.球形细胞脑白质营养不良一例[J].中华儿科杂志,1997,35(12):620.
  • 9Yang Y1, Ren X, Xu Q, et al. Four novel GALC gene mutations in two Chinese patients with Krabbe disease [J]. Gene, 2013, 519(2): 381-384.
  • 10Grover S B, Gupta P, Jain M, et al. Characteristic CT and MR features of Krabbe's disease: A case report [J]. In- dian J Radiol Imaging, 2005, 15: 503-506.

引证文献9

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中华儿科杂志
2013年 第1期

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