Enzyme Replacement Therapy for Pompe Disease

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

(2011) Suhrad G. Banugaria et al.   GENETICS IN MEDICINE

Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening

(2011) Yin-Hsiu Chien et al.   JOURNAL OF PEDIATRICS

Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease

(2011) David Orlikowski et al.   NEUROMUSCULAR DISORDERS

Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy

(2011) Deniz Güngör et al.   Orphanet Journal of Rare Diseases

Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder—murine Pompe disease

(2010) Nina Raben et al.   Autophagy

Immune tolerance induction to enzyme-replacement therapy by co-administration of short-term, low-dose methotrexate in a murine Pompe disease model

(2010) A. Joseph et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes

(2010) Stefania Zampieri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II

(2010) Bruno Bembi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy

(2010) Nina Raben et al.   MOLECULAR GENETICS AND METABOLISM

Prognostic factors for late-onset Pompe disease with enzyme replacement therapy: The two sides of low BMI

(2010) Sabrina Ravaglia et al.   MOLECULAR GENETICS AND METABOLISM

Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: From our experience of 4 cases including an autopsy case

(2010) Hiroshi Kobayashi et al.   MOLECULAR GENETICS AND METABOLISM

High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa

(2010) Juna M. de Vries et al.   MOLECULAR GENETICS AND METABOLISM

Where do we stand in enzyme replacement therapy in Pompe’s disease?

(2010) A.T. van der Ploeg   NEUROMUSCULAR DISORDERS

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

(2010) Ans T. van der Ploeg et al.   NEW ENGLAND JOURNAL OF MEDICINE

Resistance exercise and nutrition to counteract muscle wasting

(2009) Jonathan P. Little et al.   Applied Physiology Nutrition and Metabolism

Immunomodulatory Gene Therapy in Lysosomal Storage Disorders

(2009) Dwight Koeberl et al.   CURRENT GENE THERAPY

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

(2009) Giancarlo Parenti   EMBO Molecular Medicine

The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase

(2009) John J. Flanagan et al.   HUMAN MUTATION

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial

(2009) S. Strothotte et al.   JOURNAL OF NEUROLOGY

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

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

Glycoengineered Acid α-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease

(2009) Yunxiang Zhu et al.   MOLECULAR THERAPY

Elimination of Antibodies to Recombinant Enzyme in Pompe's Disease

(2009) Nancy J. Mendelsohn et al.   NEW ENGLAND JOURNAL OF MEDICINE

Pompe's disease

(2008) Ans T van der Ploeg et al.   LANCET

Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency

(2008) A. C. Nascimbeni et al.   NEUROLOGY

Diagnosis of glycogenosis type II

(2008) B. Bembi et al.   NEUROLOGY

Management and treatment of glycogenosis type II

(2008) B. Bembi et al.   NEUROLOGY

Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease

(2008) C.I. van Capelle et al.   NEUROMUSCULAR DISORDERS

Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease

(2007) Maarten R. Drost et al.   MUSCLE & NERVE