M E Grace

Summary

Affiliation: Mount Sinai School of Medicine
Country: USA

Publications

  1. pmc Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients
    M E Grace
    Department of Human Genetics, Mount Sinai School of Medicine, New York 10029 6574, USA
    J Clin Invest 99:2530-7. 1997
  2. pmc Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease
    M E Grace
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Clin Invest 103:817-23. 1999
  3. ncbi request reprint Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation
    M P Wasserstein
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA
    Am J Med Genet 84:334-9. 1999
  4. pmc Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility
    Y A Ioannou
    Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Biochem J 332:789-97. 1998
  5. ncbi request reprint Bladder neck mobility is a heritable trait
    H P Dietz
    University of Sydney, NSW 2751, Australia
    BJOG 112:334-9. 2005

Collaborators

Detail Information

Publications5

  1. pmc Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients
    M E Grace
    Department of Human Genetics, Mount Sinai School of Medicine, New York 10029 6574, USA
    J Clin Invest 99:2530-7. 1997
    ..These mutations further expand the genetic heterogeneity in the lesions causing Gaucher disease types 1 and 2, and further delineate genotype/phenotype correlations and functional domains within the acid beta-glucosidase gene...
  2. pmc Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease
    M E Grace
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Clin Invest 103:817-23. 1999
    ..Thus, characterization of these novel genotypes with non-pseudogene-derived complex mutations provided the pathogenic basis for their diverse phenotypes...
  3. ncbi request reprint Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation
    M P Wasserstein
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA
    Am J Med Genet 84:334-9. 1999
    ..Since lytic mandibular lesions may be complicated by osteomyelitis, pathologic fracture, and tooth loss, regular dental assessments in Type 1 Gaucher patients should be performed...
  4. pmc Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility
    Y A Ioannou
    Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Biochem J 332:789-97. 1998
    ....
  5. ncbi request reprint Bladder neck mobility is a heritable trait
    H P Dietz
    University of Sydney, NSW 2751, Australia
    BJOG 112:334-9. 2005
    ..We undertook a heritability study to determine whether mobility of the bladder neck, one of the main determinants of stress urinary incontinence, is genetically influenced...