Gregory M. Pastores

Research interests

Publications

• Clinical course of sly syndrome (mucopolysaccharidosis type VII)

  Journal of Medical Genetics · 2016 · 10.1136/jmedgenet-2015-103322

• Glucosylsphingosine is a key biomarker of Gaucher disease

  American Journal of Hematology · 2016 · 10.1002/ajh.24491

• Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1

  JAMA · 2015 · 10.1001/jama.2015.459

• Lysosomal Storage Diseases

  Elsevier eBooks · 2012 · 10.1016/b978-1-4377-0435-8.00036-6

• 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

  Blood · 2010 · 10.1182/blood-2010-06-293902

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

  Journal of Inherited Metabolic Disease · 2010 · 10.1007/s10545-010-9055-0

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

  Blood · 2010 · 10.1182/blood-2010-03-273151

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

  American Journal of Hematology · 2009 · 10.1002/ajh.21362

• Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I

  PEDIATRICS · 2008 · 10.1542/peds.2007-3847

• Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry

  Molecular Genetics and Metabolism · 2007 · https://doi.org/10.1016/j.ymgme.2007.09.013

• The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

  Molecular Genetics and Metabolism · 2007 · 10.1016/j.ymgme.2007.01.011

• Enzyme-Replacement Therapy With Agalsidase Alfa in Children With Fabry Disease

  PEDIATRICS · 2006 · 10.1542/peds.2005-2895

• Effect of Enzyme Replacement Therapy With Imiglucerase on BMD in Type 1 Gaucher Disease

  Journal of Bone and Mineral Research · 2006 · 10.1359/jbmr.061004

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

  Genetics in Medicine · 2006 · 10.1097/01.gim.0000237866.70357.c6

• Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients

  Genetics in Medicine · 2005 · 10.1097/01.gim.0000154300.84107.75

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

  Clinical Therapeutics · 2005 · 10.1016/j.clinthera.2005.08.004

• Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)

  The Journal of Pediatrics · 2004 · 10.1016/j.jpeds.2004.01.046

• Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients

  Seminars in Hematology · 2004 · 10.1053/j.seminhematol.2004.07.010

• Therapeutic goals in the treatment of Gaucher disease

  Seminars in Hematology · 2004 · 10.1053/j.seminhematol.2004.07.009

• The role of the iminosugar N‐butyldeoxynojirimycin (miglustat) in the management of type I (non‐neuronopathic) Gaucher disease: A position statement

  Journal of Inherited Metabolic Disease · 2003 · 10.1023/a:1025902113005

• 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

  The American Journal of Medicine · 2002 · 10.1016/s0002-9343(02)01150-6

• Patients with Fabry disease on dialysis in the United States

  Kidney International · 2002 · 10.1046/j.1523-1755.2002.00097.x

• The Gaucher Registry

  Archives of Internal Medicine · 2000 · https://doi.org/10.1001/archinte.160.18.2835

• Gaucher Disease

  Archives of Internal Medicine · 1998 · 10.1001/archinte.158.16.1754

• Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.

  PubMed · 1993

Current projects

No projects listed.