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Serena Gasperini

Fondazione IRCCS San Gerardo dei Tintori
H指数:28
被引数:2,368

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A comprehensive study on the effect of alglucosidase alpha and immunomodulation on survival, motor and cardiac outcome, creatine kinase and antibody titers in classic infantile Pompe disease: the Monza experience
2026-01-220
OAAI
Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease? (Nov , 10.1007/s40259-025-00757-7 , 2025)

血浆或白细胞中的α-葡萄糖苷酶活性能否作为经典婴儿型庞贝病未来基因治疗的生物标志物?(Nov, 10.1007/s40259-025-00757-7, 2025)

2025-12-010
OAAI
Late-onset Pompe’s disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm

儿科迟发性庞贝病:来自一项意大利全国性调查的38例患者的结果及针对性诊断算法的提出

2025-11-280
OAAI
Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

血浆或白细胞中的α-葡萄糖苷酶活性能否作为经典婴儿型庞贝病未来基因治疗的生物标志物?

2025-11-240
OAAI
Long-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation

长期安全性结局及患者对居家静脉酶替代疗法(ERT)的偏好: Pompe病和Mucopolysaccharidosis Type I(MPS-I)两年观察的最终结果

2025-11-220
OA
Expanded Newborn Screening in Italy: The First Report of Lombardy Region

意大利扩大新生儿筛查:伦巴第大区的首次报告

2025-09-290
OAAI
Non-neurological, non skeletal outcomes after hematopoietic stem and progenitor cell-gene therapy -OTL-203- for Hurler syndrome

非神经性、非骨骼结局:用于Hurler综合征的造血干细胞及祖细胞-基因疗法-OTL-203

2025-09-270
PRE
Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation

线粒体乙酰乙酰辅酶A硫解酶缺乏症:通过新生儿筛查发现的三个新病例证实了C4OH升高的意义

2025-09-060
OAAI
Expanded Newborn Screening in Italy: The First Report of Lombardy Region

意大利扩展新生儿筛查:伦巴第大区首份报告

2025-08-210
PRE
Long-Term Efficacy and Tolerability of Pegzilarginase in Arginase 1 Deficiency: Results of Two International Multicentre Open-Label Extension Studies

Pegzilarginase在精氨酸酶1缺乏症中的长期疗效和耐受性:两项国际多中心开放标签扩展研究的结果

2025-07-250
OA
Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. Int. J. Neonatal Screen. 2025, 11, 31

更正:Berardo等人. 意大利新生儿筛查扩展:伦巴第地区的首次报告。Int. J. Neonatal Screen. 2025, 11, 31

2025-07-220
OAAI
Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians' point of view: the results of an Italian survey

遗传代谢病中的过渡期:营养师、儿科医生和成人科医生的观点:一项意大利调查的结果

2025-05-220
OA