Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

(2019) Ineke Labrijn-Marks et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain

(2018) Berendine J Ebbink et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study

(2018) Si Houn Hahn et al.   GENETICS IN MEDICINE

High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy

(2018) Esther Poelman et al.   JOURNAL OF PEDIATRICS

Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease

(2017) Constantinos Papadopoulos et al.   MOLECULAR GENETICS AND METABOLISM

Long-term benefit of enzyme replacement therapy in Pompe disease

(2017) Esther Kuperus et al.   NEUROLOGY

Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase

(2017) Francesco Puzzo et al.   Science Translational Medicine

Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease

(2017) Véronique Roig-Zamboni et al.   Nature Communications

Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease

(2017) Erik van der Wal et al.   Molecular Therapy-Nucleic Acids

GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells

(2017) Erik van der Wal et al.   Molecular Therapy-Nucleic Acids

Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease

(2017) Manuela Corti et al.   Human Gene Therapy Clinical Development

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study

(2016) C. M. van Gelder et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

(2016) Omar Soukarieh et al.   PLoS Genetics

Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up

(2015) Deniz Güngör et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy

(2015) A. Broomfield et al.   JOURNAL OF INHERITED METABOLIC DISEASE

208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26–28 September 2014

(2015) Benedikt Schoser et al.   NEUROMUSCULAR DISORDERS

Translational readthrough potential of natural termination codons in eucaryotes – The impact of RNA sequence

(2015) Maciej Dabrowski et al.   RNA Biology

Identification and Characterization of AberrantGAAPre-mRNA Splicing in Pompe Disease Using a Generic Approach

(2014) Atze J. Bergsma et al.   HUMAN MUTATION

How to describe the clinical spectrum in Pompe disease?

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

B-Cell Depletion and Immunomodulation before Initiation of Enzyme Replacement Therapy Blocks the Immune Response to Acid Alpha-Glucosidase in Infantile-Onset Pompe Disease

(2013) Melissa E. Elder et al.   JOURNAL OF PEDIATRICS

Enzyme replacement therapy and fatigue in adults with Pompe disease

(2013) Deniz Güngör et al.   MOLECULAR GENETICS AND METABOLISM

Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents

(2013) A. Dardis et al.   NUCLEIC ACIDS RESEARCH

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease

(2012) Yoav H. Messinger et al.   GENETICS IN MEDICINE

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

(2012) Marian Kroos et al.   HUMAN MUTATION

36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy

(2012) Caroline Regnery et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

(2012) Juna M de Vries et al.   Orphanet Journal of Rare Diseases

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots

(2011) Shohei Shigeto et al.   MOLECULAR GENETICS AND METABOLISM

Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes

(2011) K. H. Lim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype

(2010) N. P. van Til et al.   BLOOD

Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience

(2010) Anupam Chakrapani et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study

(2010) C.I. van Capelle et al.   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

Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates

(2009) O. P. van Diggelen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Elimination of Antibodies to Recombinant Enzyme in Pompe's Disease

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

Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

(2009) Priya S Kishnani et al.   PEDIATRIC RESEARCH

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

(2008) Marian A Kroos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

(2008) Marian Kroos et al.   HUMAN MUTATION