Variable Response to Enzyme Replacement Therapy in Two Chinese Children with Infantile-onset Pompe Disease in Hong Kong

GWK Poon; AMK Kwok; PT Cheung; Tc Yung; YK Ng; NS Tsoi; KY Wong; LCK Low

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Variable Response to Enzyme Replacement Therapy in Two Chinese Children with Infantile-onset Pompe Disease in Hong Kong

机译：香港两名中国小儿发作性庞贝病儿童对酶替代疗法的可变反应

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Pompe disease, a rare autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase, results in lysosomal accumulation of glycogen in multiple tissues, primarily affecting muscles. Infantile-onset Pompe disease is characterised by generalised muscle weakness, hypotonia and lethal cardiomyopathy, resulting in death within the first year of life. The advent of enzyme replacement therapy has changed the natural history of the disease. We report our experience of the use of recombinant human acid alpha-glucosidase in the treatment of two Chinese patients with infantile-onset Pompe disease in Hong Kong.

机译：庞贝病是一种罕见的常染色体隐性遗传疾病，由酸性α-葡萄糖苷酶的缺乏引起，导致糖原在多种组织中的溶酶体蓄积，主要影响肌肉。小儿发作性庞贝病的特征是全身性肌肉无力，肌张力低下和致死性心肌病，导致在生命的第一年内死亡。酶替代疗法的出现改变了疾病的自然史。我们报告了我们在人类中使用重组人酸性α-葡萄糖苷酶治疗香港两名中国婴幼儿发作性庞贝病患者的经验。

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《Hong Kong Journal of Paediatrics》 |2009年第4期|共9页
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GWK Poon; AMK Kwok; PT Cheung; Tc Yung; YK Ng; NS Tsoi; KY Wong; LCK Low;
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1. Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy [J] . Broomfield A., Fletcher J., Davison J., Journal of inherited metabolic disease . 2016,第2期

机译：33例英国婴幼儿发作性庞贝病患者对酶替代疗法的反应
2. B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset pompe disease [J] . ElderM.E., NayakS., CollinsS.W., The Journal of pediatrics . 2013,第3期

机译：在开始发生酶替代疗法之前，B细胞的耗竭和免疫调节会阻止对婴幼儿发作性庞贝病的酸性α-葡萄糖苷酶的免疫反应
3. Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease [J] . Dmitriy Niyazov, Diego A. Lara The Ochsner Journal . 2018,第4期

机译：婴儿发作性庞贝病患者的酶替代治疗改善心脏功能
4. HCI Technology with Mastery Learning Approach for Children Learning Chinese Characters Writing in Hong Kong [C] . Ka Yan FUNG, Kwong Chiu FUNG IEEE International Conference on Advanced Learning Technologies . 2020

机译：HCI技术与精通学习方法，帮助香港儿童学习汉字写作
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. Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy [O] . Chien-Yu Hsueh, Chii-Yuan Huang, Chia-Feng Yang, 2021

机译：早期酶替代疗法后婴儿发病性Pompe病的听力特征
7. B-Cell Depletion and Immunomodulation before Initiation of Enzyme Replacement Therapy Blocks the Immune Response to Acid Alpha-Glucosidase in Infantile-Onset Pompe Disease [O] . Department of Pediatrics, University of Florida, Gainesville, FL ( host institution ), Elder, Melissa E. ( UF author ), Nayak, Sushrusha ( UF author ), 2013

机译：B细胞耗竭和酶调节治疗开始前的免疫调节阻止了婴儿发作性庞贝病中对酸性α-葡萄糖苷酶的免疫反应。

Variable Response to Enzyme Replacement Therapy in Two Chinese Children with Infantile-onset Pompe Disease in Hong Kong

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