List of works - Gregory M Pastores

A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with i

scientific article published on 18 June 2014

A chaperone-mediated approach to enzyme enhancement as a therapeutic option for the lysosomal storage disorders

scientific article published on January 2006

A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability

scientific article

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1.

scientific article

Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease

scientific article published on 23 July 2019

Advances in the management of Anderson-Fabry disease: enzyme replacement therapy

scientific article

Agalsidase alfa in pediatric patients with Fabry disease: a 6.5-year open-label follow-up study

scientific article

An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment

scientific article

Anderson-Fabry disease: extrarenal, neurologic manifestations

scientific article

Association Between Progranulin and Gaucher Disease

scientific article

Biochemical and molecular genetic basis of Fabry disease.

scientific article

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

scientific article

Clinical course and prognosis in patients with Gaucher disease and parkinsonism

scientific article published on 4 March 2016

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

scientific article published in June 2016

Current and emerging therapies for the lysosomal storage disorders

scientific article

Early access experience with VPRIV(®): recommendations for 'core data' collection.

scientific article published on 13 December 2010

Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease

scientific article published on 01 January 2007

Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial

scientific article

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

scientific article

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

scientific article published on January 2004

Enzyme replacement therapy for Anderson-Fabry disease

scientific article

Enzyme replacement therapy for Anderson-Fabry disease

scientific article (published 2010-05-12)

Enzyme replacement therapy for Fabry disease

scientific article

Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity ⬇️

scientific article published on February 3, 2011

Expanding spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types--correlation with genotype and phenotype

scientific article

Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

scientific article

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

scientific article published on September 2006

Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage‐targeted enzyme replacement therapy ⬇️

scientific article published on August 4, 2010

Gastrointestinal disturbances and their management in miglustat‐treated patients ⬇️

scientific article published on July 21, 2011

Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization

scientific article

Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease

scientific article

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation

scientific journal article

Glucosylsphingosine is a key biomarker of Gaucher disease

scientific article published on 21 July 2016

High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease.

scientific article

Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study

scientific article

Individualization of long-term enzyme replacement therapy for Gaucher disease

scientific article

Involvement of vps33a in the fusion of uroplakin-degrading multivesicular bodies with lysosomes

scientific article published on 26 May 2009

Life expectancy in Gaucher disease type 1

scientific article

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase

scientific article published on June 2015

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

scientific article

Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I).

scientific article

Review: Therapeutic approaches for lysosomal storage diseases ⬇️

scientific article published on August 1, 2010

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.

scientific article published on 22 January 2013

Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat

scientific article

Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1.

scientific article

The risk of Parkinson's disease in type 1 Gaucher disease

scientific article

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

scientific article

Therapeutic goals in the treatment of Gaucher disease.

scientific article

Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation

scientific article

Unique medical issues in adult patients with mucopolysaccharidoses

scientific article

Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease

scientific article

Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease

scientific article

Velaglucerase alfa, a human recombinant glucocerebrosidase enzyme replacement therapy for type 1 Gaucher disease.

scientific article

List of works by Gregory M Pastores

A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with i

A chaperone-mediated approach to enzyme enhancement as a therapeutic option for the lysosomal storage disorders

A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1.

Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease

Advances in the management of Anderson-Fabry disease: enzyme replacement therapy

Agalsidase alfa in pediatric patients with Fabry disease: a 6.5-year open-label follow-up study

An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment

Anderson-Fabry disease: extrarenal, neurologic manifestations

Association Between Progranulin and Gaucher Disease

Biochemical and molecular genetic basis of Fabry disease.

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

Clinical course and prognosis in patients with Gaucher disease and parkinsonism

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Current and emerging therapies for the lysosomal storage disorders

Early access experience with VPRIV(®): recommendations for 'core data' collection.

Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease

Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

Enzyme replacement therapy for Anderson-Fabry disease

Enzyme replacement therapy for Anderson-Fabry disease

Enzyme replacement therapy for Fabry disease

Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity ⬇️

Expanding spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types--correlation with genotype and phenotype

Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage‐targeted enzyme replacement therapy ⬇️

Gastrointestinal disturbances and their management in miglustat‐treated patients ⬇️

Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization

Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation

Glucosylsphingosine is a key biomarker of Gaucher disease

High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease.

Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study

Individualization of long-term enzyme replacement therapy for Gaucher disease

Involvement of vps33a in the fusion of uroplakin-degrading multivesicular bodies with lysosomes

Life expectancy in Gaucher disease type 1

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I).

Review: Therapeutic approaches for lysosomal storage diseases ⬇️

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.

Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat

Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1.

The risk of Parkinson's disease in type 1 Gaucher disease

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

Therapeutic goals in the treatment of Gaucher disease.

Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation

Unique medical issues in adult patients with mucopolysaccharidoses

Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease

Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease

Velaglucerase alfa, a human recombinant glucocerebrosidase enzyme replacement therapy for type 1 Gaucher disease.