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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

Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.383-390

2016

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Childhood Pompe disease: clinical spectrum and genotype in 31 patients

Orphanet journal of rare diseases, 2016-05, Vol.11 (1), p.65-65, Article 65

2016

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Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy

Journal of inherited metabolic disease, 2012-05, Vol.35 (3), p.505-511

2012

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Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

Brain (London, England : 1878), 2005-03, Vol.128 (3), p.671-677

2005

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Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype

Neurology, 2007-01, Vol.68 (2), p.110

2007

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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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Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype

Journal of inherited metabolic disease, 2013-09, Vol.36 (5), p.787-794

2013

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Cardiac evaluation in children and adults with Pompe disease sharing the common c.−32-13T>G genotype rarely reveals abnormalities

Journal of the neurological sciences, 2008-12, Vol.275 (1), p.46-50

2008

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Enzyme therapy for Pompe disease with recombinant human α‐glucosidase from rabbit milk

Journal of inherited metabolic disease, 2001-04, Vol.24 (2), p.266-274

2001

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Bone, joint and tooth development in mucopolysaccharidoses: Relevance to therapeutic options

Biochimica et biophysica acta, 2011-11, Vol.1812 (11), p.1542-1556

2011

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

Journal of inherited metabolic disease, 2009-06, Vol.32 (3), p.416-423

2009

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Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease

Molecular genetics and metabolism, 2011-09, Vol.104 (1-2), p.129-136

2011

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Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease

Neuromuscular disorders : NMD, 2009-02, Vol.19 (2), p.113-117

2009

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Inconsistent reporting about dosing, dosing regimen, and immunomodulation therapy in Pompe disease

Genetics in medicine, 2012-09, Vol.14 (9), p.827; author reply 827-828

Reuser, A J J

2012

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Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease

Human molecular genetics, 1998, Vol.7 (1), p.53-62

1998

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Disease severity in children and adults with Pompe disease related to age and disease duration

Neurology, 2005-06, Vol.64 (12), p.2139

2005

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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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Enzyme therapy in Pompe disease: questions remain

Molecular genetics and metabolism, 2012-09, Vol.107 (1-2), p.243-243

Reuser, A.J.J.

2012

Volltextzugriff (PDF)

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

Neuromuscular disorders : NMD, 2008-06, Vol.18 (6), p.447-452

2008

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Fatigue : an important feature of late-onset Pompe disease

Journal of neurology, 2007-07, Vol.254 (7), p.941-945, Article 941

2007

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

Neuromuscular disorders : NMD, 2010-12, Vol.20 (12), p.775-782

2010

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Course of disability and respiratory function in untreated late-onset Pompe disease

Neurology, 2006-02, Vol.66 (4), p.581

2006

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Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots

Molecular genetics and metabolism, 2011, Vol.102 (1), p.44-48

2011

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Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease

Gene, 2014-03, Vol.537 (1), p.41-45

2014

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Late-onset Pompe disease primarily affects quality of life in physical health domains

Neurology, 2004-11, Vol.63 (9), p.1688

2004

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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

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype

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

Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype

Cardiac evaluation in children and adults with Pompe disease sharing the common c.−32-13T>G genotype rarely reveals abnormalities

Enzyme therapy for Pompe disease with recombinant human α‐glucosidase from rabbit milk

Bone, joint and tooth development in mucopolysaccharidoses: Relevance to therapeutic options

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

Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease

Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease

Inconsistent reporting about dosing, dosing regimen, and immunomodulation therapy in Pompe disease

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease

Disease severity in children and adults with Pompe disease related to age and disease duration

Recombinant human α-glucosidase from rabbit milk in Pompe patients

Enzyme therapy in Pompe disease: questions remain

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

Fatigue : an important feature of late-onset Pompe disease

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

Course of disability and respiratory function in untreated late-onset Pompe disease

Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots

Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease

Late-onset Pompe disease primarily affects quality of life in physical health domains

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