Lista de obras -

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

artículo científico publicado en 2015

Adjunctive β2‐agonists reverse neuromuscular involvement in murine Pompe disease ⬇️

artículo científico publicado el 19 de septiembre de 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado el 18 de mayo de 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

artículo científico publicado en 2005

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

artículo científico publicado en 2009

Characterization of a canine model of glycogen storage disease type IIIa ⬇️

artículo científico publicado el 26 de junio de 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2006

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

artículo científico publicado en 2006

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2004

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 2009

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

artículo científico publicado el 5 de mayo de 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2002

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

artículo científico publicado el 10 de noviembre de 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2019

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

artículo científico publicado en 2011

Liver and Skin Histopathology in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B) ⬇️

artículo científico publicado el 1 de agosto de 2012

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

artículo científico publicado en 2020

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

artículo científico publicado en 2009

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

artículo científico publicado en 2004

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

artículo científico publicado en 2013

Natural Progression of Canine Glycogen Storage Disease Type IIIa

artículo científico publicado en 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

artículo científico publicado en 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).

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

artículo científico publicado en 2005

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 11 de noviembre de 2011

Lista de obras de

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 ⬇️