Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

NEO1 and NEO-EXT studies: Long-term safety and exploratory efficacy of repeat avalglucosidase alfa dosing for 5.5 years in late-onset Pompe disease patients

(2020) Mazen M. Dimachkie et al.   MOLECULAR GENETICS AND METABOLISM

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

(2020) David W. Stockton et al.   JOURNAL OF NEUROLOGY

Patients’ Global Impression of Change in the management of peripheral neuropathic pain: Clinical relevance and correlations in daily practice

(2019) Serge Perrot et al.   EUROPEAN JOURNAL OF PAIN

Forced vital capacity and cross-domain late-onset Pompe disease outcomes: an individual patient-level data meta-analysis

(2019) Kenneth I. Berger et al.   JOURNAL OF NEUROLOGY

Multisystem late onset Pompe disease (LOPD): an update on clinical aspects

(2019) Antonio Toscano et al.   Annals of Translational Medicine

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: a phase 1, open-label, multicenter, multinational, ascending dose study

(2018) Loren D.M. Pena et al.   NEUROMUSCULAR DISORDERS

Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis

(2016) Benedikt Schoser et al.   JOURNAL OF NEUROLOGY

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study

(2016) Ans van der Ploeg et al.   MOLECULAR GENETICS AND METABOLISM

Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced vital capacity) predict ventilator use in late-onset Pompe disease

(2016) Erin M. Johnson et al.   NEUROMUSCULAR DISORDERS

Progression from respiratory dysfunction to failure in late-onset Pompe disease

(2016) Kenneth I. Berger et al.   NEUROMUSCULAR DISORDERS

How to describe the clinical spectrum in Pompe disease?

(2013) Deniz Güngör et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Glycan Structure Determinants for Cation-Independent Mannose 6-Phosphate Receptor Binding and Cellular Uptake of a Recombinant Protein

(2013) Qun Zhou et al.   BIOCONJUGATE CHEMISTRY

The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?

(2013) Robin Lachmann et al.   Orphanet Journal of Rare Diseases

The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management

(2012) Priya S. Kishnani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

(2012) Ans T. van der Ploeg et al.   MOLECULAR GENETICS AND METABOLISM

New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy

(2012) Corrado Angelini et al.   MUSCLE & NERVE

The Rasch-built Pompe-specific Activity (R-PAct) scale

(2012) N.A.M.E. van der Beek et al.   NEUROMUSCULAR DISORDERS

The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients

(2011) Carine I. van Capelle et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

A covariate-adjustment regression model approach to noninferiority margin definition

(2010) Lei Nie et al.   STATISTICS IN MEDICINE

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

Sorting of lysosomal proteins

(2008) Thomas Braulke et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Pompe's disease

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