相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium
Imke Anise Maartje Ditters et al.
LANCET CHILD & ADOLESCENT HEALTH (2022)
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction
Cindy Li et al.
GENETICS IN MEDICINE (2021)
Tolerance induction and microglial engraftment after fetal therapy without conditioning in mice with Mucopolysaccharidosis type VII
Quoc-Hung Nguyen et al.
SCIENCE TRANSLATIONAL MEDICINE (2020)
Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort
Ankit K. Desai et al.
FRONTIERS IN IMMUNOLOGY (2020)
The First Year Experience of Newborn Screening for Pompe Disease in California
Hao Tang et al.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)
Emptying the stores: lysosomal diseases and therapeutic strategies
Frances M. Platt
NATURE REVIEWS DRUG DISCOVERY (2018)
Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease
Zoheb B. Kazi et al.
JCI INSIGHT (2017)
Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction
Priya S. Kishnani et al.
MOLECULAR GENETICS AND METABOLISM (2016)
A Large-Scale Nationwide Newborn Screening Program for Pompe Disease in Taiwan: Towards Effective Diagnosis and Treatment
Chia-Feng Yang et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy
Sean N. Prater et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques
Sarah P. Young et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2012)
Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program
Shu-Chuan Chiang et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants
Priya S. Kishnani et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Antenatal diagnosis of pompe disease by fetal echocardiography: impact on outcome after early initiation of enzyme replacement therapy
Mohamed A. Hamdan et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment
Yin-Hsiu Chien et al.
PEDIATRICS (2009)
Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease
Roddy McDowell et al.
GENETICS IN MEDICINE (2008)
Sibling phenotype concordance in classical infantile Pompe disease
Wendy E. Smith et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
分享论文
