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Mechanism for selective secretion of a lysosomal protease by transformed mouse fibroblasts

The Journal of biological chemistry, 1989-05, Vol.264 (13), p.7377-7383

1989

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Modulation of the Transport of a Lysosomal Enzyme by PDGF

The Journal of cell biology, 1990-02, Vol.110 (2), p.319-326

1990

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Urine sulfatides and the diagnosis of metachromatic leukodystrophy

Clinical chemistry (Baltimore, Md.), 1996-02, Vol.42 (2), p.232-238

1996

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A second mutation associated with apparent β-hexosaminidase A pseudodeficiency : identification and frequency estimation

American journal of human genetics, 1993-12, Vol.53 (6), p.1198-1205

1993

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Unusual thermolability properties of leukocyte beta-hexosaminidase: implications in screening for carriers of Tay-Sachs disease

Clinical chemistry (Baltimore, Md.), 1993-09, Vol.39 (9), p.1811

1993

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Mutational analyses of Tay-Sachs disease : studies on Tay-Sachs carriers of French Canadian background living in New England

American journal of human genetics, 1995-04, Vol.56 (4), p.870-879

1995

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Diagnosis of alpha-mannosidosis by measuring alpha-mannosidase in plasma

Clinical chemistry (Baltimore, Md.), 1992-04, Vol.38 (4), p.501

1992

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Unusual biochemical presentation of GM1 gangliosidosis: markedly elevated levels of multiple plasma lysosomal enzyme activities

Journal of inherited metabolic disease, 1993-09, Vol.16 (5), p.897-898

1993

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Effects of calcium on phosphatidylserine- and saposin C-stimulated glucosylceramide beta-glucosidase activity

Biochemical journal, 1995-09, Vol.310 ( Pt 2) (2), p.571-575

Prence, E M

1995

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Mammalian glucocerebrosidase: implications for Gaucher's disease

Laboratory investigation, 1988-01, Vol.58 (1), p.5

1988

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In vitro accumulation of glucocerebroside in neuroblastoma cells: A model for study of Gaucher disease pathobiology

Journal of neuroscience research, 1996-02, Vol.43 (3), p.365-371

1996

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Adult onset lysosomal storage disease in a Tibetan terrier : clinical, morphological and biochemical studies

Acta neuropathologica, 1992-11, Vol.84 (6), p.658-663

1992

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Marked variation in blood beta-hexosaminidase in Gaucher disease

Clinica chimica acta, 1991-11, Vol.203 (1), p.17-22

1991

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Lysosomal storage diseases

Laboratory investigation, 1985-09, Vol.53 (3), p.250

1985

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Marked Heterogeneity in Niemann-Pick Disease, Type C: Clinical and Ultrastructural Findings

Clinical pediatrics, 1995-04, Vol.34 (4), p.190-197

1995

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Sucrose gradient analysis of phospholipid-activated β-glucosidase in type 1 and type 2 Gaucher's disease

Archives of biochemistry and biophysics, 1985-01, Vol.238 (1), p.344-352

1985

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Sulfogalactocerebroside and bis-(monoacylglyceryl)-phosphate as activators of spleen glucocerebrosidase

Clinica chimica acta, 1986-04, Vol.156 (2), p.179-189

1986

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Characterization of clinical assays for leukocyte and fibroblast alpha- N-acetylgalactosaminidase activities for the diagnosis of alpha- N-acetylgalactosaminidase deficiency

Clinica chimica acta, 1996-03, Vol.247 (1), p.167-173

1996

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A mutation common in non-jewish Tay-Sachs disease: Frequency and RNA studies

Human mutation, 1992, Vol.1 (4), p.303-309

1992

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Unusual thermolability properties of beta-hexosaminidase: Studies of enzyme from cultured cells and clinical implications

American journal of medical genetics, 1996-11, Vol.65 (4), p.320-324

1996

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A practical guide for the validation of genetic tests

Genetic testing, 1999, Vol.3 (2), p.201-205

Prence, E M

1999

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A kinetic study of the effects of galactocerebroside 3-sulphate on human spleen glucocerebrosidase. Evidence for two activator-binding sites

Biochemical journal, 1986-08, Vol.237 (3), p.655-662

1986

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Heterozygote screening for Tay-Sachs disease: past successes and future challenges

Current opinion in pediatrics, 1996-12, Vol.8 (6), p.625-629

1996

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Characterization of clinical assays for leukocyte and fibroblasts alpha-N-acetylgalactosaminidase activities for the diagnosis of alpha-N-acetylgalactosaminidase deficiency

Clinica chimica acta, 1996, Vol.247 (1-2), p.167-173

1996

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Heterozygosity for Tay-Sachs and Sandhoff Diseases among Massachusetts Residents with French Canadian Background

Journal of medical screening, 1997, Vol.4 (3), p.133-136

1997

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Mechanism for selective secretion of a lysosomal protease by transformed mouse fibroblasts

Modulation of the Transport of a Lysosomal Enzyme by PDGF

Urine sulfatides and the diagnosis of metachromatic leukodystrophy

A second mutation associated with apparent β-hexosaminidase A pseudodeficiency : identification and frequency estimation

Unusual thermolability properties of leukocyte beta-hexosaminidase: implications in screening for carriers of Tay-Sachs disease

Mutational analyses of Tay-Sachs disease : studies on Tay-Sachs carriers of French Canadian background living in New England

Diagnosis of alpha-mannosidosis by measuring alpha-mannosidase in plasma

Unusual biochemical presentation of GM1 gangliosidosis: markedly elevated levels of multiple plasma lysosomal enzyme activities

Effects of calcium on phosphatidylserine- and saposin C-stimulated glucosylceramide beta-glucosidase activity

Mammalian glucocerebrosidase: implications for Gaucher's disease

In vitro accumulation of glucocerebroside in neuroblastoma cells: A model for study of Gaucher disease pathobiology

Adult onset lysosomal storage disease in a Tibetan terrier : clinical, morphological and biochemical studies

Marked variation in blood beta-hexosaminidase in Gaucher disease

Lysosomal storage diseases

Marked Heterogeneity in Niemann-Pick Disease, Type C: Clinical and Ultrastructural Findings

Sucrose gradient analysis of phospholipid-activated β-glucosidase in type 1 and type 2 Gaucher's disease

Sulfogalactocerebroside and bis-(monoacylglyceryl)-phosphate as activators of spleen glucocerebrosidase

Characterization of clinical assays for leukocyte and fibroblast alpha- N-acetylgalactosaminidase activities for the diagnosis of alpha- N-acetylgalactosaminidase deficiency

A mutation common in non-jewish Tay-Sachs disease: Frequency and RNA studies

Unusual thermolability properties of beta-hexosaminidase: Studies of enzyme from cultured cells and clinical implications

A practical guide for the validation of genetic tests

A kinetic study of the effects of galactocerebroside 3-sulphate on human spleen glucocerebrosidase. Evidence for two activator-binding sites

Heterozygote screening for Tay-Sachs disease: past successes and future challenges

Characterization of clinical assays for leukocyte and fibroblasts alpha-N-acetylgalactosaminidase activities for the diagnosis of alpha-N-acetylgalactosaminidase deficiency

Heterozygosity for Tay-Sachs and Sandhoff Diseases among Massachusetts Residents with French Canadian Background

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