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Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

Journal of inherited metabolic disease, 2015-03, Vol.38 (2), p.305-314

2015

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Pompe's disease

The Lancet (British edition), 2008-10, Vol.372 (9646), p.1342-1353

2008

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How to describe the clinical spectrum in Pompe disease?

American journal of medical genetics. Part A, 2013-02, Vol.161A (2), p.399-400

2013

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Lysosomal Storage Disease 2 Pompe's disease

The Lancet (British edition), 2008-10, Vol.372 (9646), p.1342-1353

2008

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Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study

Orphanet journal of rare diseases, 2013-03, Vol.8 (1), p.49-49, Article 49

2013

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GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Human mutation, 2019-11, Vol.40 (11), p.2146-2164

2019

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A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

Orphanet journal of rare diseases, 2012-06, Vol.7 (1), p.35-35, Article 35

2012

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

Orphanet journal of rare diseases, 2011-06, Vol.6 (1), p.34-34

2011

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The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

Pediatrics (Evanston), 2003-08, Vol.112 (2), p.332-340

2003

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

Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.253-260

2016

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A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds

PloS one, 2013-02, Vol.8 (2), p.e56825-e56825

2013

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Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

Orphanet journal of rare diseases, 2012-11, Vol.7 (1), p.88-88

2012

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The genotype-phenotype correlation in Pompe disease

American journal of medical genetics. Part C, Seminars in medical genetics, 2012-02, Vol.160C (1), p.59-68

2012

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

Blood, 2010-07, Vol.115 (26), p.5329-5337

2010

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Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe Disease

Molecular therapy. Methods & clinical development, 2020-06, Vol.17, p.1014-1025

2020

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Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program

Orphanet journal of rare diseases, 2015-07, Vol.10 (1), p.87-87, Article 87

2015

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Phenotypical variation within 22 families with Pompe disease

Orphanet journal of rare diseases, 2013-11, Vol.8 (1), p.182-182

2013

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

Molecular genetics and metabolism, 2010-12, Vol.101 (4), p.338-345

2010

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Rapid Ultraperformance Liquid Chromatography― Tandem Mass Spectrometry Assay for a Characteristic Glycogen-Derived Tetrasaccharide in Pompe Disease and Other Glycogen Storage Diseases

Clinical chemistry (Baltimore, Md.), 2012-07, Vol.58 (7), p.1139-1147

2012

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Plain language summary: How the Pompe Registry is helping to identify and explain gene changes in Pompe disease

Future Rare Diseases, 2022-10, Vol.2 (4)

2022

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

Orphanet journal of rare diseases, 2012-09, Vol.7 (1), p.73-73, Article 73

2012

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Low bone mass in Pompe disease Muscular strength as a predictor of bone mineral density

Bone (New York, N.Y.), 2010-09, Vol.47 (3), p.643-649

2010

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The natural course of non-classic Pompe's disease; a review of 225 published cases

Journal of neurology, 2005-08, Vol.252 (8), p.875-884

2005

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Enzyme replacement therapy in late-onset Pompe's disease: A three-year follow-up

Annals of neurology, 2004-04, Vol.55 (4), p.495-502

2004

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PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease

Journal of inherited metabolic disease, 2010-04, Vol.33 (2), p.133-139

2010

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Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

Pompe's disease

How to describe the clinical spectrum in Pompe disease?

Lysosomal Storage Disease 2 Pompe's disease

Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

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

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

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

A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

The genotype-phenotype correlation in Pompe disease

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

Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe Disease

Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program

Phenotypical variation within 22 families with Pompe disease

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

Rapid Ultraperformance Liquid Chromatography― Tandem Mass Spectrometry Assay for a Characteristic Glycogen-Derived Tetrasaccharide in Pompe Disease and Other Glycogen Storage Diseases

Plain language summary: How the Pompe Registry is helping to identify and explain gene changes in Pompe disease

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

Low bone mass in Pompe disease Muscular strength as a predictor of bone mineral density

The natural course of non-classic Pompe's disease; a review of 225 published cases

Enzyme replacement therapy in late-onset Pompe's disease: A three-year follow-up

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease

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