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Genotype–phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype

Developmental medicine and child neurology, 2017-10, Vol.59 (10), p.1063-1070

2017

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The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease

PloS one, 2018-12, Vol.13 (12), p.e0208854-e0208854

2018

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

European journal of human genetics : EJHG, 2008-08, Vol.16 (8), p.875-879

2008

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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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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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Structural modeling of mutant α-glucosidases resulting in a processing transport defect in Pompe disease

Journal of human genetics, 2009-06, Vol.54 (6), p.324-330

2009

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Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy

Genetics in medicine, 2017-01, Vol.19 (1), p.90-97

2017

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Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase

Orphanet journal of rare diseases, 2013-04, Vol.8 (1), p.51-51, Article 51

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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Chemical chaperones improve transport and enhance stability of mutant α-glucosidases in glycogen storage disease type II

Molecular genetics and metabolism, 2007, Vol.90 (1), p.49-57

2007

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High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

Molecular genetics and metabolism, 2009-07, Vol.97 (3), p.190-195

2009

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Response to Herbert et al

Genetics in medicine, 2017-11, Vol.19 (11), p.1283-1283

2017

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Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

Human mutation, 2004-01, Vol.23 (1), p.47-56

2004

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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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A rare presentation of childhood pompe disease: cardiac involvement provoked by Epstein-Barr virus infection

Pediatrics (Evanston), 2002-04, Vol.109 (4), p.e65

2002

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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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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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Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

Human mutation, 2004-01, Vol.23 (1), p.47-56

2004

Volltextzugriff (PDF)

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

The Journal of pediatrics, 2018-04, Vol.195, p.236-243.e3

2018

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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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Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

JIMD Reports - Case and Research Reports, 2012/4, 2013-01, Vol.7, p.39-48

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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A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn

Neuromuscular disorders : NMD, 2004-06, Vol.14 (6), p.371-374

2004

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Enzyme therapy for Pompe disease: from science to industrial enterprise

European journal of pediatrics, 2002-10, Vol.161 Suppl 1 (1), p.S106-S111

2002

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Genotype–phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype

The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease

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

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

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

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

Structural modeling of mutant α-glucosidases resulting in a processing transport defect in Pompe disease

Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase

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

Chemical chaperones improve transport and enhance stability of mutant α-glucosidases in glycogen storage disease type II

High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

Response to Herbert et al

Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

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

A rare presentation of childhood pompe disease: cardiac involvement provoked by Epstein-Barr virus infection

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

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

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

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

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

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

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

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn

Enzyme therapy for Pompe disease: from science to industrial enterprise

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