Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infant

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Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infant

机译：高剂量口服氨溴氧吡罗的早期引发与酶替代疗法在神经疗法婴儿中的组合

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《Blood cells, molecules and diseases》 |2020年第2020期|共2页
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正文语种 eng
中图分类血液及淋巴系疾病;
关键词
Ambroxol chaperone therapy; Glucosylsphingosine (Lyso-GL1); Neuropathic Gaucher infant; Newborn screening;

机译：Ambroxol伴侣疗法;葡萄糖囊苷（Lyso-Gl1）;神经病陶器婴儿;新生儿筛查;

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1. Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infant [J] . Blood cells, molecules and diseases . 2020,第期

机译：高剂量口服氨溴氧吡罗的早期引发与酶替代疗法在神经疗法婴儿中的组合
2. Avascular necrosis in neuronopathic Gaucher despite high-dose enzyme replacement therapy [J] . Bailey Lauren A., Sullivan Jennifer, Kishnani Priya S. Molecular genetics and metabolism . 2015,第2期

机译：大剂量酶替代治疗后神经病性戈谢氏无血管坏死
3. Platelet response to enzyme replacement therapy and oral substrate reduction therapy in an adult with Gaucher disease [J] . DeArmey Stephanie, Charles William, Kishnani Priya S. Molecular genetics and metabolism . 2016,第2期

机译：成人高雪氏病对酶替代疗法和口服基质减少疗法的血小板反应
4. Ursodeoxycholic acid: high-dose, monotherapy or combination therapy? [C] . Falk Liver Week . 2004

机译：核糖核酸酸：高剂量，单疗法或联合治疗？
5. Concurrent validity and responsiveness of the Peabody Developmental Motor Scales-2 in infants and children with Pompe disease undergoing enzyme replacement therapy [D] . Phillips, Dawn. 2012

机译：皮博迪发育运动量表2在接受酶替代疗法的庞贝病婴儿和儿童中的并发有效性和反应性
6. Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis [O] . Pramod K Mistry, Patrick Deegan, Ashok Vellodi, -1

机译：诊断1型Gaucher病后开始酶替代治疗的时间：对血管坏死发生率的影响
7. Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis [O] . de Fost Maaike, Hollak Carla E. M., Groener Johanna E. M., 2006

机译：高剂量酶替代疗法在1型Gaucher病中对骨髓受累和壳三糖苷酶水平的优异效果：2中心回顾性分析

Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infant

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