Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
Tayebi, N, Walker, J, Stubblefield, B, Orvisky, E, LaMarca, M.E, Wong, K, Rosenbaum, H, Schiffmann, R, Bembi, B, Sidransky, E
Published in Molecular genetics and metabolism (01.06.2003)
Published in Molecular genetics and metabolism (01.06.2003)
Get full text
Journal Article
Gaucher Disease and Parkinsonism: A Phenotypic and Genotypic Characterization
Tayebi, N., Callahan, M., Madike, V., Stubblefield, B.K., Orvisky, E., Krasnewich, D., Fillano, J.J., Sidransky, E.
Published in Molecular genetics and metabolism (01.08.2001)
Published in Molecular genetics and metabolism (01.08.2001)
Get full text
Journal Article
Divergent phenotypes in Gaucher disease implicate the role of modifiers
Goker-Alpan, O, Hruska, K S, Orvisky, E, Kishnani, P S, Stubblefield, B K, Schiffmann, R, Sidransky, E
Published in Journal of medical genetics (01.06.2005)
Published in Journal of medical genetics (01.06.2005)
Get full text
Journal Article
Gustin from Human Parotid Saliva Is Carbonic Anhydrase VI
Thatcher, B.J., Doherty, A.E., Orvisky, E., Martin, B.M., Henkin, R.I.
Published in Biochemical and biophysical research communications (29.09.1998)
Published in Biochemical and biophysical research communications (29.09.1998)
Get full text
Journal Article
Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation
ORVISKY, E, SIDRANSKY, E, MCKINNEY, C. E, LAMARCA, M. E, SAMIMI, R, KRASNEWICH, D, MARTIN, B. M, GINNS, E. I
Published in Pediatric research (01.08.2000)
Published in Pediatric research (01.08.2000)
Get full text
Journal Article
Phosphomannomutase activity in congenital disorders of glycosylation type Ia determined by direct analysis of the interconversion of mannose-1-phosphate to mannose-6-phosphate by high-pH anion-exchange chromatography with pulsed amperometric detection
Orvisky, E., Stubblefield, B., Long, R.T., Martin, B.M., Sidransky, E., Krasnewich, D.
Published in Analytical biochemistry (01.06.2003)
Published in Analytical biochemistry (01.06.2003)
Get full text
Journal Article
Glucocerebrosidase mutation T369M appears to be another polymorphism
Walker, J M, Lwin, A, Tayebi, N, LaMarca, M E, Orvisky, E, Sidransky, E
Published in Clinical genetics (01.03.2003)
Published in Clinical genetics (01.03.2003)
Get full text
Journal Article
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease
Orvisky, E., Park, J.K., Parker, A., Walker, J.M., Martin, B.M., Stubblefield, B.K., Uyama, E., Tayebi, N., Sidransky, E.
Published in Human mutation (01.04.2002)
Published in Human mutation (01.04.2002)
Get full text
Journal Article
Glucocerebrosidase mutations in subjects with parkinsonism
Lwin, Alicia, Orvisky, Eduard, Goker-Alpan, Ozlem, LaMarca, Mary E, Sidransky, Ellen
Published in Molecular genetics and metabolism (2004)
Published in Molecular genetics and metabolism (2004)
Get full text
Journal Article
Glucocerebrosidase Gene Mutations in Patients With Type 2 Gaucher Disease
Stone, D L, Tayebi, N, Orvisky, E, Stubblefield, B, Madike, V, Sidransky, E
Published in Human mutation (01.02.2000)
Published in Human mutation (01.02.2000)
Get full text
Journal Article
Size exclusion chromatographic characterization of sodium hyaluronate fractions prepared by high energetic sonication
ORVISKY, E, SOLTES, L, CHABRECEK, P, NOVAK, I, STANCIKOVA, M
Published in Chromatographia (01.07.1993)
Published in Chromatographia (01.07.1993)
Get full text
Journal Article
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease
Stone, Deborah L., Tayebi, Nahid, Orvisky, Eduard, Stubblefield, Barbara, Madike, Victor, Sidransky, Ellen
Published in Human mutation (01.02.2000)
Published in Human mutation (01.02.2000)
Get full text
Journal Article
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype
Orvisky, Eduard, Park, Joseph K, LaMarca, Mary E, Ginns, Edward I, Martin, Brian M, Tayebi, Nahid, Sidransky, Ellen
Published in Molecular genetics and metabolism (01.08.2002)
Published in Molecular genetics and metabolism (01.08.2002)
Get full text
Journal Article
Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher Disease
Tayebi, Nahid, Stubblefield, Barbara K., Park, Joseph K., Orvisky, Eduard, Walker, Jamie M., LaMarca, Mary E., Sidransky, Ellen
Published in American journal of human genetics (01.03.2003)
Published in American journal of human genetics (01.03.2003)
Get full text
Journal Article