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1دورية أكاديمية
المؤلفون: Xin-Wei Shi, Jiang-Hong Deng, Cai-Feng Li
المصدر: Frontiers in Pediatrics, Vol 12 (2024)
مصطلحات موضوعية: Degos disease, malignant atrophic papulosis, infantile onset, neurological involvement, prognosis, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2024.1374150/fullTest; https://doaj.org/toc/2296-2360Test
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2دورية أكاديمية
المؤلفون: Riedy, Mary, Zhang, Jeff F, Huang, Taosheng, Swayampakula, Anil Kumar
المصدر: JIMD reports. 64(1)
مصطلحات موضوعية: GAA gene, atrial flutter, enzyme replacement therapy, infantile‐onset Pompe disease, neutropenia, ventricular hypertrophy, Rare Diseases, Cardiovascular, Pediatric, Chronic Liver Disease and Cirrhosis, Digestive Diseases, Prevention, Liver Disease
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1s13p1sxTest
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3دورية أكاديمية
المؤلفون: Qiang Zhang, Qi Yang, Jingsi Luo, Xunzhao Zhou, Shang Yi, Shuyin Tan, Zailong Qin
المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)
مصطلحات موضوعية: Infantile-onset ascending hereditary spastic paralysis, IAHSP, ALS2, Whole-exome sequencing, Minigene, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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4دورية أكاديمية
المؤلفون: Priya S. Kishnani, David Kronn, Shugo Suwazono, Alexander Broomfield, Juan Llerena, Zuhair Nasser Al-Hassnan, Julie L. Batista, Kathryn M. Wilson, Magali Periquet, Nadia Daba, Andreas Hahn, Yin-Hsiu Chien
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
مصطلحات موضوعية: Alglucosidase alfa, Dose, Enzyme replacement therapy, Infantile onset Pompe disease, Pompe disease, Pompe registry, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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5دورية أكاديمية
المؤلفون: Santasree Banerjee, Qiang Zhao, Bo Wang, Jiale Qin, Xin Yuan, Ziwei Lou, Weizeng Zheng, Huanguo Li, Xiaojun Wang, Xiawei Cheng, Yu Zhu, Fan Lin, Fan Yang, Junyu Xu, Anjana Munshi, Parimal Das, Yuanfeng Zhou, Kausik Mandal, Yi Wang, Muhammad Ayub, Nobutaka Hirokawa, Yongmei Xi, Guangfu Chen, Chen Li
المصدر: MedComm, Vol 5, Iss 4, Pp n/a-n/a (2024)
مصطلحات موضوعية: cargo trafficking, Drosophila model, infantile‐onset epilepsy, in‐frame deletion, Kinesin, psychomotor retardation, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2688-2663Test
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6دورية أكاديمية
المؤلفون: Mei-Yan Chan, Julaina Abdul Jalil, Yusnita Yakob, Siti Aishah Abdul Wahab, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, Huey-Yin Leong, Hui-Bein Chew, Jeya Bawani Sivabalakrishnan, Lock-Hock Ngu
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
مصطلحات موضوعية: Acid alpha-glucosidase, Enzyme replacement therapy, GAA, Infantile-onset Pompe disease, Lysosomal storage disease, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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7دورية أكاديمية
المؤلفون: Ankit K. Desai, P. Brian Smith, John S. Yi, Amy S. Rosenberg, Trevor D. Burt, Priya S. Kishnani
المصدر: Frontiers in Immunology, Vol 14 (2024)
مصطلحات موضوعية: infantile-onset Pompe disease, immunophenotyping, anti-drug antibodies, immune profiling, immune activation, enzyme replacement therapy, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1301912/fullTest; https://doaj.org/toc/1664-3224Test
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8دورية أكاديمية
المؤلفون: Banerjee, Santasree, Zhao, Qiang, Wang, Bo, Qin, Jiale, Yuan, Xin, Lou, Ziwei, Zheng, Weizeng, Li, Huanguo, Wang, Xiaojun, Cheng, Xiawei, Zhu, Yu, Lin, Fan, Yang, Fan, Xu, Junyu, Munshi, Anjana, Das, Parimal, Zhou, Yuanfeng, Mandal, Kausik, Wang, Yi, Ayub, Muhammad, Hirokawa, Nobutaka, Xi, Yongmei, Chen, Guangfu, Li, Chen
المصدر: MedComm , 5 (4) , Article e469. (2024)
مصطلحات موضوعية: Cargo trafficking, Drosophila model, infantile-onset epilepsy, in-frame deletion, Kinesin, psychomotor retardation
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10190327/1/A%20novel%20in%20frame%20deletion%20in%20KIF5C%20gene%20causes%20infantile%20onset%20epilepsy%20and%20psychomotor.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10190327Test/
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9دورية أكاديمية
المؤلفون: Miao Pan, Justin Kurtz
المصدر: Frontiers in Medicine, Vol 10 (2023)
مصطلحات موضوعية: STAT3, SH2, infantile-onset, autoimmune, sequencing, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fmed.2023.1251088/fullTest; https://doaj.org/toc/2296-858XTest
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10دورية أكاديمية
المؤلفون: Wang, Raymond Y
المصدر: International Journal of Neonatal Screening. 6(1)
مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Genetics, Liver Disease, Rare Diseases, Infant Mortality, Pediatric, Digestive Diseases, Perinatal Period - Conditions Originating in Perinatal Period, Chronic Liver Disease and Cirrhosis, 2.1 Biological and endogenous factors, Aetiology, Neurological, Pompe disease, late-onset, newborn screening, presymptomatic, c-32-13T infantile-onset, G, c.-32-13T>, infantile-onset
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3300d6d6Test