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糖原累积病Ⅲ型临床和基因研究进展 被引量:4

Recent advances of clinical and genomic study of glycogen storage disease type Ⅲ
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作者 庄太凤
出处 《临床儿科杂志》 CAS CSCD 北大核心 2006年第12期947-949,共3页 Journal of Clinical Pediatrics
关键词 糖原累积病Ⅲ型 临床 基因 glycogen storage disease type Ⅲ clinic gene
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参考文献16

  • 1Forbes GB. Glycogen storage disease: report of a case with abnormal glycogen structure in liver and skeletal muscle. J Pediatr, 1953,42 (6):645-653. 被引量:1
  • 2Illingworth B, Cori GT, Cori CF. Amylo-1, 6-glucosidase in muscle tissue in generalized glycogen storage disease, J Biol Chem, 1956,218(1) : 123-139. 被引量:1
  • 3Zimakas PJ, Rodd CJ. Glycogen storage disease type Ⅲ in inuit children. CMAJ, 2005,172(3) :355-358. 被引量:1
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  • 5White RC, Nelson TE. Re-evaluation of the subunit structure and molecular weight of rabbit muscle amylo-1,6-glucosidase-4-alpha- glucanotransferase. Biochem Biophys Acta, 1974,365(1): 274-280. 被引量:1
  • 6Coleman RA, Winter HS, Wolf B, et al. Glycogen debranching enzyme deficiency :long- term study of serum enzyme activities and clinical features. J Inherit Metab Dis, 1992,15(6) :869-881. 被引量:1
  • 7Ingle SA, Moulick ND, Ranadive NU, et al. Hepatocellular failure in glycogen storage disorder type 3. J Assoc Physicians India, 2004,52 : 158-160. 被引量:1
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二级参考文献7

  • 1Parvari R, Moses S, Shen J, et al. A single-base deletion in the 3'-coding region of glyeogen-debranehing enzyme is prevalent in glycogen storage disease type Ⅲ A in a population of North African Jewish patients. Eur J Hum Genet, 1997,5:266-270. 被引量:1
  • 2Santer R, Kinner M, Steuerwald U, et al. Molecular genetic basis and prevalence of glycogen storage disease type Ⅲ A in the Faroe Islands. Eur J Hum Genet,2001,9:388-391. 被引量:1
  • 3Wolfsdorf JI, Holm IA, Weinstein DA. Glycogen storage diseases.Phenotypic, genetic, and biochemical characteristics, and therapy.Endocrinol Metab Clin North Am , 1999,28:801-823. 被引量:1
  • 4Kiechl S, Kohlendorfer U, Thaler C,et al. Different clinical aspects of debrancher deficiency myopathy. J Neurol Neurosurg Psychiatry ,1999,67:364-368. 被引量:1
  • 5Shaiu WL, Kishnani PS, Shen J, et al. Genotype-phenotype correlation in two frequent mutations and mutation update in type Ⅲ glycogen storage disease. Mol Genet Metab,2000,69:16-23. 被引量:1
  • 6Bao Y, Yang BZ, Dawson TL Jr, et al. Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA:identification of multiple tissue-specific isoforms. Gene, 1997,197:389-398. 被引量:1
  • 7Shen J, Liu HM, Bao Y, et al. Polymorphic markers of glycogen debranching enzyme allowing linkage analysis in families with glycogen storage disease type Ⅲ. J Med Genet, 1997,34:34-38. 被引量:1

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