贮积症
- 网络storage disease;Mannosidosis
-
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
-
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 .
-
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) .
-
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 .
-
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 ?
-
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 .
-
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
-
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
-
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 .
-
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
-
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
-
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
-
糖原贮积症伴脂质贮积症
Glycogen Storage Disease Associated with Lipid Storage Myopathy
-
肝糖原贮积症肾脏并发症的临床观察
Renal complications of hepatic glycogen storage disease
-
溶酶体贮积症的产前诊断
Prenatal Diagnosis of Lysosomal Storage Diseases
-
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
-
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
-
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 .
-
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
-
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 .
-
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 .