UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Response to de Vries et al

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

2017

Volltextzugriff (PDF)

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

JCI insight, 2017-08, Vol.2 (16)

2017

Volltextzugriff (PDF)

Immune tolerance strategies in siblings with infantile Pompe disease — Advantages for a preemptive approach to high-sustained antibody titers

Molecular genetics and metabolism reports, 2015-09, Vol.4 (C), p.30-34

2015

Volltextzugriff (PDF)

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

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

2016

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Immune modulation for a female Hunter syndrome patient prior to starting idursulfase

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S153-S154

2019

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

A prediction model to identify infantile Pompe disease (IPD) patients at high-risk of developing significant anti-drug antibodies (ADA) utilizing acid α-glucosidase (GAA) variants and HLA-type

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S76-S76

2018

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease

Molecular genetics and metabolism, 2017-12, Vol.122 (4), p.189-197

2017

Volltextzugriff (PDF)

A newborn screening dilemma: when to treat Pompe disease with c.-32-13T&gt/;G IVS splice site mutation

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S24

2017

Volltextzugriff (PDF)

Early initiation of prophylactic immune tolerance induction and enzyme replacement therapy in prenatally diagnosed infantile onset Pompe disease with a CRIM-negative mutation

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

2017

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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, 2018-02, Vol.123 (2), p.S21-S21

2018

Volltextzugriff (PDF)

Discordant clinical responses in CRIM-positive IPD siblings demonstrate need for prophylactic ITI in the naive setting

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S22-S22

2015

Volltextzugriff (PDF)

Prophylactic immume modulation in infantile Pompe disease: Collective experience treating CRIM-positive and negative patients in the naive setting

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S64-S64

2015

Volltextzugriff (PDF)

Proteomics to identify signature proteins in patients likely to mount an immune response to enzyme replacement therapy in infantile Pompe disease

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S61-S61

2015

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S38-S38

2018

Volltextzugriff (PDF)

1 – 25 von 28

Suche als RSS-Feed

Aktive Filter

ThemaMale

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(28)
Mit Volltextzugriff
(28)

Publikationsform

Artikel
(28)

Sprache

Englisch
(28)

Erscheinungsjahr

n.n

Zeitschrift / Serie

Molecular Genetics And Metabolism
(19)
Molecular Genetics And Metabolism Reports
(3)
Genetics In Medicine
(2)
Jci Insight
(2)
Journal Of Neuromuscular Diseases
(1)
The Journal Of Pediatrics
(1)

1 weiteren anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

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

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

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

Response to de Vries et al

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

Immune tolerance strategies in siblings with infantile Pompe disease — Advantages for a preemptive approach to high-sustained antibody titers

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

Clinical laboratory experience of blood CRIM testing in infantile Pompe disease

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

Immune modulation for a female Hunter syndrome patient prior to starting idursulfase

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

A prediction model to identify infantile Pompe disease (IPD) patients at high-risk of developing significant anti-drug antibodies (ADA) utilizing acid α-glucosidase (GAA) variants and HLA-type

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

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease

A newborn screening dilemma: when to treat Pompe disease with c.-32-13T&gt/;G IVS splice site mutation

Early initiation of prophylactic immune tolerance induction and enzyme replacement therapy in prenatally diagnosed infantile onset Pompe disease with a CRIM-negative mutation

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

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

Discordant clinical responses in CRIM-positive IPD siblings demonstrate need for prophylactic ITI in the naive setting

Prophylactic immume modulation in infantile Pompe disease: Collective experience treating CRIM-positive and negative patients in the naive setting

Proteomics to identify signature proteins in patients likely to mount an immune response to enzyme replacement therapy in infantile Pompe disease

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

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

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

Aktive Filter

Suchergebnisse filtern