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Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

Blood cells, molecules, & diseases, 2018-02, Vol.68, p.203-208

2018

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Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy

Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.643-650

2011

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Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study

Journal of inherited metabolic disease, 2014-11, Vol.37 (6), p.969-978

2014

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Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study

Clinical genetics, 2008-05, Vol.73 (5), p.430-440

2008

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Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

Journal of inherited metabolic disease, 2008-06, Vol.31 (3), p.319-336

2008

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Imiglucerase (Cerezyme®) improves quality of life in patients with skeletal manifestations of Gaucher disease

Clinical genetics, 2007-06, Vol.71 (6), p.576-588

2007

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The role of the iminosugar N‐butyldeoxynojirimycin (miglustat) in the management of type I (non‐neuronopathic) Gaucher disease: A position statement

Journal of inherited metabolic disease, 2003-09, Vol.26 (6), p.513-526

2003

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Autosomal Dominant Gene Negative Frontotemporal Dementia-Think of SCA17

Cerebellum (London, England), 2019-06, Vol.18 (3), p.654-658

2019

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Greater risk of parkinsonism associated with non-N370S GBA1 mutations

Journal of inherited metabolic disease, 2013-05, Vol.36 (3), p.575-580

2013

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Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease: results from the NCS-LSD cohort study

Journal of inherited metabolic disease, 2014-11, Vol.37 (6), p.961-968

2014

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Long‐Term Outcomes of Liver Transplantation in Type 1 Gaucher Disease

American journal of transplantation, 2010-08, Vol.10 (8), p.1934-1939

2010

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A bolt from the blue; A case report of an unusual asthma exacerbation

Respiratory medicine case reports, 2020-01, Vol.29, p.100983, Article 100983

2020

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Krabbe disease: an overview

International journal of clinical pharmacology and therapeutics, 2009-01, Vol.47 Suppl 1, p.S75

Pastores, G M

2009

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Quality of Life of Patients with Fabry Disease

Quality of life research, 2002-06, Vol.11 (4), p.317-327

2002

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Animal models for lysosomal storage disorders

Biochemistry (Moscow), 2013-07, Vol.78 (7), p.721-725

2013

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Krabbe disease: Clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards

Molecular genetics and metabolism, 2012-01, Vol.105 (1), p.126-131

2012

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A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1

Molecular genetics and metabolism, 2009-04, Vol.96 (4), p.164-170

2009

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A neurological symptom survey of patients with type I Gaucher disease

Journal of inherited metabolic disease, 2003-01, Vol.26 (7), p.641-645

2003

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Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients

Genetics in medicine, 2005-02, Vol.7 (2), p.119-123

2005

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Therapeutic goals in the treatment of Fabry disease

Genetics in medicine, 2010-11, Vol.12 (11), p.713-720

2010

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Pulmonary involvement in Type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease

Clinical genetics, 2003-05, Vol.63 (5), p.368-376

2003

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Spontaneous appearance of Tay–Sachs disease in an animal model

Molecular genetics and metabolism, 2008-09, Vol.95 (1), p.59-65

2008

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Neuropsychological assessment of patients with late onset GM2 gangliosidosis

Neurology, 2004-06, Vol.62 (12), p.2283

2004

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Therapeutic effects of astrocytes expressing both tyrosine hydroxylase and brain-derived neurotrophic factor on a rat model of Parkinson’s disease

Neuroscience, 2002-01, Vol.113 (3), p.629-640

2002

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Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.817-817

2007

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Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy

Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study

Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

Imiglucerase (Cerezyme®) improves quality of life in patients with skeletal manifestations of Gaucher disease

The role of the iminosugar N‐butyldeoxynojirimycin (miglustat) in the management of type I (non‐neuronopathic) Gaucher disease: A position statement

Autosomal Dominant Gene Negative Frontotemporal Dementia-Think of SCA17

Greater risk of parkinsonism associated with non-N370S GBA1 mutations

Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease: results from the NCS-LSD cohort study

Long‐Term Outcomes of Liver Transplantation in Type 1 Gaucher Disease

A bolt from the blue; A case report of an unusual asthma exacerbation

Krabbe disease: an overview

Quality of Life of Patients with Fabry Disease

Animal models for lysosomal storage disorders

Krabbe disease: Clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards

A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1

A neurological symptom survey of patients with type I Gaucher disease

Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients

Therapeutic goals in the treatment of Fabry disease

Pulmonary involvement in Type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease

Spontaneous appearance of Tay–Sachs disease in an animal model

Neuropsychological assessment of patients with late onset GM2 gangliosidosis

Therapeutic effects of astrocytes expressing both tyrosine hydroxylase and brain-derived neurotrophic factor on a rat model of Parkinson’s disease

Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties

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