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Frequency of Unrecognized Fabry Disease Among Young European-American and African-American Men With First Ischemic Stroke

Stroke (1970), 2010-01, Vol.41 (1), p.78-81

2010

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Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations—implications for diagnosis and therapeutic monitoring

Human mutation, 2007-09, Vol.28 (9), p.866-873

2007

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Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele

Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.789-793

2011

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Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy

Molecular genetics and metabolism, 2002-09, Vol.77 (1), p.91-98

2002

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Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients

European journal of human genetics : EJHG, 2000-02, Vol.8 (2), p.95-102

2000

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Enzyme augmentation in moderate to life-threatening gaucher disease

Pediatric research, 1992-05, Vol.31 (5), p.496-502

1992

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Gaucher disease: Four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants

Human mutation, 1992, Vol.1 (5), p.423-427

1992

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CHALLENGES ENCOUNTERED BY BACHELOR OF PHYSICAL EDUCATION STUDENTS IN CONDUCTING RESEARCH IN PHYSICAL EDUCATION IN THE NEW NORMAL SET-UP

International Journal of Research Publications, 2023-02, Vol.119 (1)

2023

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Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility

Biochemical journal, 1998-06, Vol.332 ( Pt 3) (3), p.789-797

1998

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Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease

The Journal of clinical investigation, 1999-03, Vol.103 (6), p.817-823

1999

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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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Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease

Archives of neurology (Chicago), 2000-03, Vol.57 (3), p.389

2000

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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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Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients

The Journal of clinical investigation, 1997-05, Vol.99 (10), p.2530-2537

1997

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Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations

The Journal of biological chemistry, 1990-04, Vol.265 (12), p.6827-6835

1990

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Gaucher disease: expression and characterization of mild and severe acid [beta]-glucosidase mutations in Portuguese type 1 patients

European journal of human genetics : EJHG, 2000-02, Vol.8 (2), p.95

2000

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Gaucher disease: expression and characterization of mild and severe acid b-glucosidase mutations in Portuguese type1 patients

European journal of human genetics : EJHG, 2000-02, Vol.8 (2), p.95-102

2000

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Human acid β-glucosidase: Glycosylation is required for catalytic activity

Biochemical and biophysical research communications, 1990-04, Vol.168 (2), p.771-777

1990

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Heteroallelisms for acid β-glucosidase mutations L444P and E326K results in severe neonatal Gaucher disease. • 620

Pediatric research, 1997-04, Vol.41, p.106-106

1997

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Gaucher disease : heterologous expression of two alleles associated with neuronopathic phenotypes

American journal of human genetics, 1991-09, Vol.49 (3), p.646-655

1991

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Gaucher disease: Four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants

Human mutation, 1992, Vol.1 (5), p.423-427

1992

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Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: Identification and expression of a novel acid β-glucosidase mutation

American journal of medical genetics, 1999-06, Vol.84 (4), p.334-339

1999

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Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: Identification and expression of a novel acid ?-glucosidase mutation

American journal of medical genetics, 1999-06, Vol.84 (4), p.334-339

1999

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Expression of Functional Human Acid ß-Glucosidase in COS-1 and Spodoptera frugiperda Cells

Enzyme (Basel), 1989-03, Vol.41 (3), p.131-142

1989

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Risk factors for hospitalization among persons with COVID-19—Colorado

PloS one, 2021-09, Vol.16 (9), p.e0256917-e0256917

2021

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Frequency of Unrecognized Fabry Disease Among Young European-American and African-American Men With First Ischemic Stroke

Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations—implications for diagnosis and therapeutic monitoring

Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele

Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy

Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients

Enzyme augmentation in moderate to life-threatening gaucher disease

Gaucher disease: Four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants

CHALLENGES ENCOUNTERED BY BACHELOR OF PHYSICAL EDUCATION STUDENTS IN CONDUCTING RESEARCH IN PHYSICAL EDUCATION IN THE NEW NORMAL SET-UP

Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility

Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease

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

Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease

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

Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients

Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations

Gaucher disease: expression and characterization of mild and severe acid [beta]-glucosidase mutations in Portuguese type 1 patients

Gaucher disease: expression and characterization of mild and severe acid b-glucosidase mutations in Portuguese type1 patients

Human acid β-glucosidase: Glycosylation is required for catalytic activity

Heteroallelisms for acid β-glucosidase mutations L444P and E326K results in severe neonatal Gaucher disease. • 620

Gaucher disease : heterologous expression of two alleles associated with neuronopathic phenotypes

Gaucher disease: Four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants

Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: Identification and expression of a novel acid β-glucosidase mutation

Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: Identification and expression of a novel acid ?-glucosidase mutation

Expression of Functional Human Acid ß-Glucosidase in COS-1 and Spodoptera frugiperda Cells

Risk factors for hospitalization among persons with COVID-19—Colorado

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