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Genotype-phenotype correlations in Rubinstein-Taybi syndrome

American journal of medical genetics. Part A, 2008-10, Vol.146A (19), p.2512-2519

2008

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Enzyme therapy for Gaucher disease: the first 5 years

Blood reviews, 1998-06, Vol.12 (2), p.115-133

1998

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Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models

Molecular genetics and metabolism, 2011-04, Vol.102 (4), p.436-447

2011

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Human acid beta-glucosidase. N-glycosylation site occupancy and the effect of glycosylation on enzymatic activity

The Journal of biological chemistry, 1993-07, Vol.268 (20), p.14861-14866

1993

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Prosaposin is an AR-target gene and its neurotrophic domain upregulates AR expression and activity in prostate stromal cells

Journal of cellular biochemistry, 2008-08, Vol.104 (6), p.2272-2285

2008

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Prosaposin is a novel androgen-regulated gene in prostate cancer cell line LNCaP

Journal of cellular biochemistry, 2007-06, Vol.101 (3), p.631-641

2007

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Pharmacological Chaperone Therapy for the Treatment of Gaucher Disease: Results of Phase 1 Clinical Trials and a Clinical Ex Vivo Response Study with a Survey of Blood Markers for 53 Gaucher Patients

Blood, 2007-11, Vol.110 (11), p.2404-2404

2007

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Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression

Human mutation, 2005-07, Vol.26 (1), p.59-60

2005

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Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression

The Journal of biological chemistry, 1994-01, Vol.269 (3), p.2283-2291

1994

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WITHDRAWN: 92 Genz-112638: A novel orally available ceramide-based inhibitor of glucosylceramide synthase for treating Gaucher disease

Molecular genetics and metabolism, 2007-10

2007

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24 Genz-112638: A novel orally available ceramide-based inhibitor of glucosylceramide synthase for treating Gaucher disease

Molecular genetics and metabolism, 2007-12, Vol.92 (4), p.17-17

2007

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Functional human saposins expressed in Escherichia coli. Evidence for binding and activation properties of saposins C with acid beta-glucosidase

The Journal of biological chemistry, 1994-06, Vol.269 (24), p.16746-16753

1994

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Gaucher disease: A G[sup +1][yields]A[sup +1] IVS2 splice donor site mutation causing exon 2 skipping in the acid [beta]-glucosidase mRNA

American journal of human genetics, 1992-10, Vol.51:4

1992

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Human acid beta-glucosidase. Use of inhibitory and activating monoclonal antibodies to investigate the enzyme's catalytic mechanism and saposin A and C binding sites

The Journal of biological chemistry, 1991-08, Vol.266 (23), p.15021-15027

1991

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Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients

DNA and cell biology, 1991-01, Vol.10 (1), p.15-21

1991

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Human Acid β -glucosidase: Isolation and Amino Acid Sequence of a Peptide Containing the Catalytic Site

Proceedings of the National Academy of Sciences - PNAS, 1986-03, Vol.83 (6), p.1660-1664

1986

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Identification of Glu340 as the active-site nucleophile in human glucocerebrosidase by use of electrospray tandem mass spectrometry

The Journal of biological chemistry, 1994-04, Vol.269 (15), p.10975-10978

1994

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Phenotype/genotype correlations in Gaucher disease type 1 : clinical and therapeutic implications

American journal of human genetics, 1993-06, Vol.52 (6), p.1094-1101

1993

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Expression of functional human acid beta-glucosidase in COS-1 and Spodoptera frugiperda cells

Enzyme (Basel), 1989, Vol.41 (3), p.131

1989

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Recent magneto-inertial fusion experiments on the field reversed configuration heating experiment

Nuclear fusion, 2013-09, Vol.53 (9), p.93003

2013

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Experimental and Computational Progress on Liner Implosions for Compression of FRCs

IEEE transactions on plasma science, 2008-02, Vol.36 (1), p.80-91

2008

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Cold front induced changes on the Florida panhandle shelf during October 2008

Continental shelf research, 2013-02, Vol.54, p.52-66

2013

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High-density field-reversed configuration plasma for magnetized target fusion

IEEE transactions on plasma science, 2006-04, Vol.34 (2), p.223-228

2006

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A high-density field reversed configuration plasma for magnetized target fusion

IEEE transactions on plasma science, 2004-02, Vol.32 (1), p.152-160

2004

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Confinement analyses of the high-density field-reversed configuration plasma in the field-reversed configuration experiment with a liner

Physics of plasmas, 2005-05, Vol.12 (5), p.052513-052513-8

2005

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Genotype-phenotype correlations in Rubinstein-Taybi syndrome

Enzyme therapy for Gaucher disease: the first 5 years

Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models

Human acid beta-glucosidase. N-glycosylation site occupancy and the effect of glycosylation on enzymatic activity

Prosaposin is an AR-target gene and its neurotrophic domain upregulates AR expression and activity in prostate stromal cells

Prosaposin is a novel androgen-regulated gene in prostate cancer cell line LNCaP

Pharmacological Chaperone Therapy for the Treatment of Gaucher Disease: Results of Phase 1 Clinical Trials and a Clinical Ex Vivo Response Study with a Survey of Blood Markers for 53 Gaucher Patients

Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression

Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression

WITHDRAWN: 92 Genz-112638: A novel orally available ceramide-based inhibitor of glucosylceramide synthase for treating Gaucher disease

24 Genz-112638: A novel orally available ceramide-based inhibitor of glucosylceramide synthase for treating Gaucher disease

Functional human saposins expressed in Escherichia coli. Evidence for binding and activation properties of saposins C with acid beta-glucosidase

Gaucher disease: A G[sup +1][yields]A[sup +1] IVS2 splice donor site mutation causing exon 2 skipping in the acid [beta]-glucosidase mRNA

Human acid beta-glucosidase. Use of inhibitory and activating monoclonal antibodies to investigate the enzyme's catalytic mechanism and saposin A and C binding sites

Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients

Human Acid β -glucosidase: Isolation and Amino Acid Sequence of a Peptide Containing the Catalytic Site

Identification of Glu340 as the active-site nucleophile in human glucocerebrosidase by use of electrospray tandem mass spectrometry

Phenotype/genotype correlations in Gaucher disease type 1 : clinical and therapeutic implications

Expression of functional human acid beta-glucosidase in COS-1 and Spodoptera frugiperda cells

Recent magneto-inertial fusion experiments on the field reversed configuration heating experiment

Experimental and Computational Progress on Liner Implosions for Compression of FRCs

Cold front induced changes on the Florida panhandle shelf during October 2008

High-density field-reversed configuration plasma for magnetized target fusion

A high-density field reversed configuration plasma for magnetized target fusion

Confinement analyses of the high-density field-reversed configuration plasma in the field-reversed configuration experiment with a liner

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