M E Grace
Affiliation: Mount Sinai School of Medicine
- Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patientsM 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...
- Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher diseaseM 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...
- Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutationM 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...
- Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubilityY 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....
- Bladder neck mobility is a heritable traitH 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...