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The emerging phenotype of late-onset Pompe disease: A systematic literature review

Molecular genetics and metabolism, 2017-03, Vol.120 (3), p.163-172

2017

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Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy

Molecular genetics and metabolism reports, 2019-09, Vol.20, p.100475-100475, Article 100475

2019

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Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease

The Journal of pediatrics, 2020-01, Vol.216, p.44-50.e5

2020

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Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.85-91

2018

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Clinical laboratory experience of blood CRIM testing in infantile Pompe disease

Molecular genetics and metabolism reports, 2015-12, Vol.5 (C), p.76-79

2015

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High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient

Molecular genetics and metabolism, 2017-09, Vol.122 (1-2), p.76-79

2017

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Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.66-83

2016

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Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.92-96

2018

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Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G “late-onset” GAA variant

Molecular genetics and metabolism, 2017-11, Vol.122 (3), p.99-107

2017

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CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

Genetics in medicine, 2015-11, Vol.17 (11), p.912-918

2015

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Response to de Vries et al

Genetics in medicine, 2017-11, Vol.19 (11), p.1281-1282

2017

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Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses

JCI insight, 2016-07, Vol.1 (11)

2016

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Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening

Journal of neuromuscular diseases, 2015, Vol.2 (s1), p.S7-S7

2015

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Cross-reactive immunologic material positive infantile Ρompe disease: Characterization of immune responses in patient treated with enzyme replacement therapy

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S41-S41

2016

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Changing the clinical course of infantile Pompe disease with immune modulation strategies: 12 years of experience

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S48-S48

2019

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Long-term immune tolerance of infantile Pompe disease with entrenched immune responses to ERT using a bortezomib-based regimen

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S27-S28

2016

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Differentially expressed proteins in infantile Pompe disease: prediction of patients likely to mount an immune response to enzyme replacement therapy

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S66-S66

2016

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Identification of modifier genes of Pompe disease phenotype by variant analysis of whole exome sequencing data

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S83-S83

2016

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Outside the fiber: interstitial pathology of skeletal muscle in infantile Pompe disease

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S60-S61

2017

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CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

Genetics in medicine, 2015-07, Vol.17 (7), p.596-596

2015

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Prophylactic immune modulation in infantile Ρompe disease using low-dose methotrexate induction: A safe, inexpensive, widely accessible, and efficacious strategy

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S65-S66

2016

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The emerging natural history of cross-reactive immunologic material (CRIM)-negative infantile Pompe disease patients treated with recombinant human GAA

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S97

2014

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The emerging phenotype of late-onset Pompe disease: A systematic literature review

Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy

Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease

Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy

Clinical laboratory experience of blood CRIM testing in infantile Pompe disease

High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease

Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction

Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G “late-onset” GAA variant

CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

Response to de Vries et al

Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease

Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses

Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening

Cross-reactive immunologic material positive infantile Ρompe disease: Characterization of immune responses in patient treated with enzyme replacement therapy

Changing the clinical course of infantile Pompe disease with immune modulation strategies: 12 years of experience

Long-term immune tolerance of infantile Pompe disease with entrenched immune responses to ERT using a bortezomib-based regimen

Differentially expressed proteins in infantile Pompe disease: prediction of patients likely to mount an immune response to enzyme replacement therapy

Identification of modifier genes of Pompe disease phenotype by variant analysis of whole exome sequencing data

Outside the fiber: interstitial pathology of skeletal muscle in infantile Pompe disease

An immune tolerance approach using methotrexate in the naïve setting of patients treated with a therapeutic protein: Experience in infantile Pompe disease

CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

Prophylactic immune modulation in infantile Ρompe disease using low-dose methotrexate induction: A safe, inexpensive, widely accessible, and efficacious strategy

The emerging natural history of cross-reactive immunologic material (CRIM)-negative infantile Pompe disease patients treated with recombinant human GAA

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