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Pompe's disease

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

2008

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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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Public support for neonatal screening for Pompe disease, a broad-phenotype condition

Orphanet journal of rare diseases, 2012-03, Vol.7 (1), p.15-15

2012

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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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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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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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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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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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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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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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Recombinant human α-glucosidase from rabbit milk in Pompe patients

The Lancet (British edition), 2000-07, Vol.356 (9227), p.397-398

2000

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

Molecular genetics and metabolism, 2011-05, Vol.103 (1), p.12-17

2011

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First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease

Molecular genetics and metabolism, 2011-12, Vol.104 (4), p.552-555

2011

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Treatment options for lysosomal storage disorders: developing insights

Expert opinion on pharmacotherapy, 2012-11, Vol.13 (16), p.2281-2299

2012

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Enzyme replacement therapy and fatigue in adults with Pompe disease

Molecular genetics and metabolism, 2013-06, Vol.109 (2), p.174-178

2013

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Newborn screening for pompe disease? a qualitative study exploring professional views

BMC pediatrics, 2014-08, Vol.14 (1), p.203-203, Article 203

2014

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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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Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.448-455

2012

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A new diagnostic assay for glycogen storage disease type II in mixed leukocytes

Molecular genetics and metabolism, 2006-05, Vol.88 (1), p.22-28

2006

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Design and validation of a metabolic disorder resequencing microarray (BRUM1)

Human mutation, 2010-07, Vol.31 (7), p.858-865

2010

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Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.485-489

2012

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A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers

Neuromuscular disorders : NMD, 2011-03, Vol.21 (3), p.232-234

2011

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Analysis of TSC2 stop codon variants found in tuberous sclerosis patients

European journal of human genetics : EJHG, 2001-11, Vol.9 (11), p.823-828

2001

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Low bone mass in Pompe disease

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

2010

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N-glycans of recombinant human acid α-glucosidase expressed in the milk of transgenic rabbits

Glycobiology (Oxford), 2007-06, Vol.17 (6), p.600-619

2007

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Pompe's disease

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

Public support for neonatal screening for Pompe disease, a broad-phenotype condition

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

How to describe the clinical spectrum in Pompe disease?

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

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

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

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

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

Recombinant human α-glucosidase from rabbit milk in Pompe patients

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

First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease

Treatment options for lysosomal storage disorders: developing insights

Enzyme replacement therapy and fatigue in adults with Pompe disease

Newborn screening for pompe disease? a qualitative study exploring professional views

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

Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes

Design and validation of a metabolic disorder resequencing microarray (BRUM1)

Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease

A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers

Analysis of TSC2 stop codon variants found in tuberous sclerosis patients

Low bone mass in Pompe disease

N-glycans of recombinant human acid α-glucosidase expressed in the milk of transgenic rabbits

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