Coexistence of Gaucher disease type 1 and Joubert syndrome.
作者信息
van Royen-Kerkhof A, Poll-The B T, Kleijer W J, van Diggelen O P, Aerts J M, Hopwood J J, Beemer F A
出版信息
J Med Genet. 1998 Nov;35(11):965-6. doi: 10.1136/jmg.35.11.965.
Abstract
摘要
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'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature.重新审视“非神经病变型”戈谢病。荷兰一组I型戈谢病患者神经学表现的患病率及文献系统综述
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Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene.人类葡萄糖脑苷脂酶基因纯合无效突变的产前致死性。
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Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.荷兰戈谢病患者的葡萄糖脑苷脂酶基因型：预后价值的局限性
Hum Mutat. 1997;10(5):348-58. doi: 10.1002/(SICI)1098-1004(1997)10:5<348::AID-HUMU3>3.0.CO;2-B.
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Clinical and molecular analysis in Joubert syndrome.Joubert综合征的临床与分子分析
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Adult and infantile Gaucher disease in one family: mutational studies and clinical update.一个家族中的成人和婴儿型戈谢病：突变研究及临床进展
J Pediatr. 1994 Dec;125(6 Pt 1):919-21. doi: 10.1016/s0022-3476(05)82010-4.
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Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene.新生儿戈谢病：一种独特的戈谢病表型类似于通过靶向破坏葡糖脑苷脂酶基因创建的小鼠模型。
Pediatr Res. 1992 Oct;32(4):494-8. doi: 10.1203/00006450-199210000-00023.
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Joubert syndrome: a review.乔布综合征综述
Am J Med Genet. 1992 Jul 1;43(4):726-31. doi: 10.1002/ajmg.1320430415.
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