In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease

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

(2021) Cindy Li et al.   GENETICS IN MEDICINE

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

(2021) Imke Anne Maartje Ditters et al.   Lancet Child & Adolescent Health

Tolerance induction and microglial engraftment after fetal therapy without conditioning in mice with Mucopolysaccharidosis type VII

(2020) Quoc-Hung Nguyen et al.   Science Translational Medicine

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

(2020) Ankit K. Desai et al.   Frontiers in Immunology

Emptying the stores: lysosomal diseases and therapeutic strategies

(2017) Frances M. Platt   NATURE REVIEWS DRUG DISCOVERY

Regulation of liver development: implications for liver biology across the lifespan

(2016) Philip A Gruppuso et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction

(2016) Priya S. Kishnani et al.   MOLECULAR GENETICS AND METABOLISM

A large-scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment

(2013) Chia-Feng Yang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy

(2013) Sean N Prater et al.   Orphanet Journal of Rare Diseases

Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques

(2012) Sarah P. Young et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program

(2012) Shu-Chuan Chiang et al.   MOLECULAR GENETICS AND METABOLISM

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

(2009) Priya S. Kishnani et al.   MOLECULAR GENETICS AND METABOLISM

Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment

(2009) Y.-H. Chien et al.   PEDIATRICS

Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease

(2008) Roddy McDowell et al.   GENETICS IN MEDICINE