贮积症

  • 网络storage disease;Mannosidosis
贮积症贮积症
  1. 1b型糖原贮积症中基因型和表现型间的相关性:一项多中心研究和文献回顾

    Genotype / phenotype correlation in glyco-gen storage disease type 1b : A multicentre study and review of the literature

  2. 目的观察儿童期肝糖原贮积症(GSD)的肾脏并发症。

    Objective To study renal involvement in hepatic glycogen storage disease ( GSD ) in childhood .

  3. 目的研究粘多糖贮积症I型(mucopolysaccharidosistypeⅠ,MPSⅠ)患者发病的分子遗传学机理。

    Objective To investigate the molecular genetic mechanism of a Chinese patient with mucopolysaccharidosis type ⅰ( MPS ⅰ) .

  4. 方法:用PCR、RFLP、SSCP和DNA测序的方法检测我国辽宁地区10个粘多糖贮积症Ⅰ型家系α-L-艾杜糖醛酸酶基因的突变情况。

    METHODS : The mutation type and polymorphism site in the IDUA gene of Liaoning district MPS-I patients were detected by PCR-RFLP , SSCP and DNA sequencing .

  5. 兄弟二人IIb型糖原贮积症的良性病程:自然还是营养的结果?

    Benign course of glycogen storage disease type IIb in two brothers : Nature or nurture ?

  6. 目的探讨并建立粘多糖贮积症型(mucopolysaccharidosis,MPS)患者艾杜糖-2-硫酸酯酶(iduronate-2-sulphatase,IDS)基因常见突变的检测方法。

    Objective To investigate and establish the gene diagnosis methods for the frequent mutations of iduronate-2-sulphatase ( IDS ) gene in mucopolysaccharidosis type ⅱ patients .

  7. 溶酶体贮积症的诊断与治疗进展

    Recent advances in the diagnosis and treatment of lysosomal storage diseases

  8. 黏多糖贮积症I型酶替代治疗后的心脏改变

    Cardiac Findings After Enzyme Replacement Therapy for Mucopolysaccharidosis Type I

  9. 目的探讨粘多糖贮积症的X线诊断要点。

    Objective To probe criteria for diagnosing mucopolysaccharidosis using X-ray .

  10. 粘多糖贮积症的X线诊断及其临床表现

    X - ray diagnosis and clinical manifestations of mucopolysaccharidosis

  11. 胎肝细胞移植治疗粘多糖贮积症的实验研究

    Human fetal liver cell transplantation in treatment of mucopolysaccharidosis

  12. 糖原贮积症一例报告表现为肥厚型心肌病的糖原贮积病

    Glycogenosis type ⅴ: A case report Glycogen storage diseases presenting as hypertrophic cardiomyopathy

  13. 糖原贮积症伴脂质贮积症

    Glycogen Storage Disease Associated with Lipid Storage Myopathy

  14. 肝糖原贮积症肾脏并发症的临床观察

    Renal complications of hepatic glycogen storage disease

  15. 溶酶体贮积症的产前诊断

    Prenatal Diagnosis of Lysosomal Storage Diseases

  16. 糖原贮积症Ⅲ型基因突变的初步研究

    Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type ⅲ

  17. Ⅰ型糖原贮积症肾损害临床表现和病理改变

    The clinical and pathological features of Chinese patients of type ⅰ glycogen storage disease with renal involvement

  18. 神经节苷脂的缺乏直接与一系列疾病有关,比如溶酶体贮积症。

    Defects in the breakdown of gangliosides are associated with a class of disorders known as lysosomal storage diseases .

  19. 粘多糖贮积症Ⅱ型患者艾杜糖-2-硫酸酯酶基因常见突变的检测

    The detection of the frequent mutations of iduronate - 2 - sulphatase gene in mucopolysaccharidosis type ⅱ patients in Chinese

  20. 结论:我国辽宁地区粘多糖贮积症Ⅰ型患者α-L-艾杜糖醛酸酶基因的突变情况不同于其他国家和地区。

    CONCLUSION : The mutation type in the IDUA gene of Liaoning district MPS-I patients is different from that of other countries and districts .

  21. 结果异常的粘多糖可沉积于体内不同的组织和器官,形成不同类型的粘多糖贮积症,各型的影像和临床表现均有一定特征。

    Results Abnormal mucopolysaccharides can deposit in a wide variety of body organs causing mucopolysaccharidosis in different types , which present unique X-ray features and clinical signs .