List of works - Beth L. Thurberg

A Phase 4 Prospective Study in Patients with Adult Pompe Disease Treated with Alglucosidase Alfa

scientific article published in January 2015

Adjunctive β2-agonists reverse neuromuscular involvement in murine Pompe disease

scientific article

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.

scientific article published on 27 December 2012

Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease.

scientific article published on 22 October 2010

Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature

scientific article published on 18 May 2012

Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice

scientific article

Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy.

scientific article published on 4 May 2009

Characterization of a canine model of glycogen storage disease type IIIa

scientific article

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial

scientific article published on 8 May 2015

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease

scientific article

Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease

scientific article

Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases?

scientific article published on 25 March 2017

Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency

scientific article published on 23 June 2016

Conjugation of mannose 6-phosphate-containing oligosaccharides to acid alpha-glucosidase improves the clearance of glycogen in pompe mice

scientific article published on 21 September 2004

Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease

scientific article published on 05 July 2018

Correction of glycogen storage disease type III with rapamycin in a canine model

scientific article published on 8 February 2014

Differential muscular glycogen clearance after enzyme replacement therapy in a mouse model of Pompe disease

scientific article published on 14 June 2007

Early Pathologic Changes and Responses to Treatment in Patients With Later-Onset Pompe Disease

article

Enzyme replacement therapy in the mouse model of Pompe disease

scientific article published in September 2003

Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease

scientific article published on April 2009

Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered

scientific article published on 5 May 2011

Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

scientific article

Gastrointestinal involvement in Fabry disease. So important, yet often neglected

scientific article

Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy

scientific article published in December 2002

Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature

scientific article

Homeostatic role of transforming growth factor-beta in the oral cavity and esophagus of mice and its expression by mast cells in these tissues

scientific article published on 30 April 2009

Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease

scientific article published on 10 December 2019

Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.

scientific article published on 13 January 2011

Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B)

scientific article

Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatme

scientific article published on 24 June 2020

Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker.

scientific article

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial

scientific article published on 03 April 2019

Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies

scientific article published in April 2004

Myostatin and insulin-like growth factor I: potential therapeutic biomarkers for pompe disease

scientific article

Natural Progression of Canine Glycogen Storage Disease Type IIIa

scientific article published on January 2016

Nonclinical safety assessment of recombinant human acid sphingomyelinase (rhASM) for the treatment of acid sphingomyelinase deficiency:the utility of animal models of disease in the toxicological evaluation of potential therapeutics

scientific article published on 12 July 2014

Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).

scientific article

Pompe disease in infants: improving the prognosis by newborn screening and early treatment.

scientific article

Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease

scientific article published on 14 July 2014

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study

scientific article published on 19 May 2016

Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann-Pick disease.

scientific article published on 25 January 2009

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

scientific article

Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.

scientific article

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phas

scientific article published on 17 December 2018

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

scientific article

Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.

scientific article

Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice

scientific article published on August 2008

Use of direct fluorescence labeling and confocal microscopy to determine the biodistribution of two protein therapeutics, Cerezyme and Ceredase

scientific article published on 01 July 2010

α-Galactosidase A knockout mice: progressive organ pathology resembles the type 2 later-onset phenotype of Fabry disease

β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease

scientific article published on 11 November 2011

List of works by Beth L. Thurberg

A Phase 4 Prospective Study in Patients with Adult Pompe Disease Treated with Alglucosidase Alfa

Adjunctive β2-agonists reverse neuromuscular involvement in murine Pompe disease

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.

Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease.

Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature

Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice

Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy.

Characterization of a canine model of glycogen storage disease type IIIa

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease

Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease

Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases?

Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency

Conjugation of mannose 6-phosphate-containing oligosaccharides to acid alpha-glucosidase improves the clearance of glycogen in pompe mice

Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease

Correction of glycogen storage disease type III with rapamycin in a canine model

Differential muscular glycogen clearance after enzyme replacement therapy in a mouse model of Pompe disease

Early Pathologic Changes and Responses to Treatment in Patients With Later-Onset Pompe Disease

Enzyme replacement therapy in the mouse model of Pompe disease

Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease

Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered

Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

Gastrointestinal involvement in Fabry disease. So important, yet often neglected

Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy

Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature

Homeostatic role of transforming growth factor-beta in the oral cavity and esophagus of mice and its expression by mast cells in these tissues

Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease

Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.

Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B)

Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatme

Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker.

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial

Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies

Myostatin and insulin-like growth factor I: potential therapeutic biomarkers for pompe disease

Natural Progression of Canine Glycogen Storage Disease Type IIIa

Nonclinical safety assessment of recombinant human acid sphingomyelinase (rhASM) for the treatment of acid sphingomyelinase deficiency:the utility of animal models of disease in the toxicological evaluation of potential therapeutics

Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).

Pompe disease in infants: improving the prognosis by newborn screening and early treatment.

Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study

Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann-Pick disease.

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phas

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.

Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice

Use of direct fluorescence labeling and confocal microscopy to determine the biodistribution of two protein therapeutics, Cerezyme and Ceredase

α-Galactosidase A knockout mice: progressive organ pathology resembles the type 2 later-onset phenotype of Fabry disease

β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease