换一批
换一批Chitotriosidase variants in patients with Gaucher disease. Implications for diagnosis and therapeutic monitoring.
第一作者：
P,Irún
第一单位：
Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Pedro Cerbuna 12, 50009 Zaragoza, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Zaragoza, Spain; Instituto de Investigación Sanitaria de Aragón (IIS), San Juan Bosco 13, 50009 Zaragoza, Spain. Electronic address: mpirun@unizar.es.
作者：
关键词
4-methylumbelliferyl-β-D-N,N′,N″triacetylchitotrioside4MU-chitotriosideCHIT1ChTChitotriosidaseERTEnzyme replacement therapyGDGaucher diseaseHET102HETdup24HOMO102NEG102NEGdup24PolymorphismsSSIbase pairsbpc.1049_1072dup24chitotriosidasedup24enzyme replacement therapyeowevery other weekheterozygous for dup24heterozygous for p.G102Shomozygous for p.G102Snegative for dup24negative for p.G102Sseverity score index
主题词
青少年(Adolescent);成年人(Adult);老年人(Aged);老年人, 80以上(Aged, 80 and over);儿童(Child);儿童, 学龄前(Child, Preschool);酶替代疗法(Enzyme Replacement Therapy);女(雌)性(Female);戈谢病(Gaucher Disease);基因频率(Gene Frequency);杂合子(Heterozygote);己糖胺酶类(Hexosaminidases);人类(Humans);婴儿(Infant);男(雄)性(Male);多态现象, 遗传(Polymorphism, Genetic);西班牙(Spain);青年人(Young Adult)
DOI
10.1016/j.clinbiochem.2013.09.006
PMID
24060732
发布时间
2022-03-18
- 浏览112
Clinical biochemistry
1804-7页
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