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Prevalence of Anderson–Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson–Fabry Disease Survey

Heart (British Cardiac Society), 2011-12, Vol.97 (23), p.1957-1960

2011

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Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease

Molecular genetics and metabolism, 2018-08, Vol.124 (4), p.278-286

2018

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Generation of osteoclasts from type 1 Gaucher patients and correlation with clinical and genetic features of disease

Gene, 2018-12, Vol.678, p.196-206

2018

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Selective apoptotic killing of malignant hemopoietic cells by antibody-targeted delivery of an amphipathic peptide

Cancer research (Chicago, Ill.), 2005-03, Vol.65 (6), p.2373-2377

2005

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Albumin activates the AKT signaling pathway and protects B-chronic lymphocytic leukemia cells from chlorambucil- and radiation-induced apoptosis

Blood, 2003-04, Vol.101 (8), p.3174-3180

2003

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Prevalence and Clinical Significance of Cardiac Arrhythmia in Anderson-Fabry Disease

The American journal of cardiology, 2005-09, Vol.96 (6), p.842-846

2005

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An unusual case of transient dermatological reaction to bortezomib in AL amyloidosis

International journal of hematology, 2010-01, Vol.91 (1), p.121-123

2010

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The utility of the FIPI score in predicting long-term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy with agalsidase alfa

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.154-158

2018

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Glucosylceramide synthase inhibitors sensitise CLL cells to cytotoxic agents without reversing P-gp functional activity

European journal of pharmacology, 2009-05, Vol.609 (1), p.34-39

2009

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Difficulties and barriers in diagnosing Fabry disease: what can be learnt from the literature?

Expert opinion on medical diagnostics, 2013-11, Vol.7 (6), p.589-599

2013

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A validated disease severity scoring system for Fabry disease

Molecular genetics and metabolism, 2010-03, Vol.99 (3), p.283-290

2010

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Rituximab in the treatment of refractory autoimmune cytopenias in adults

Haematologica (Roma), 2005-09, Vol.90 (9), p.1273-1274

2005

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Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T)

Journal of inherited metabolic disease, 2012-03, Vol.35 (2), p.325-334

2012

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Clinical effects and P-glycoprotein inhibition in patients with acute myeloid leukemia treated with zosuquidar trihydrochloride, daunorubicin and cytarabine

Haematologica (Roma), 2004-07, Vol.89 (7), p.782

2004

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Treatment of lysosomal storage disorders

BMJ (Online), 2003-08, Vol.327 (7413), p.462

International edition, 2003

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Gaucher Disease: Outcome following Total Hip Replacements and Effect of Enzyme Replacement Therapy in a Cohort of Uk Patients

Hip international, 2011-11, Vol.21 (6), p.665-671

2011

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Geldanamycin and herbimycin A induce apoptotic killing of B chronic lymphocytic leukemia cells and augment the cells' sensitivity to cytotoxic drugs

Blood, 2004-03, Vol.103 (5), p.1855-1861

2004

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Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

Kidney international, 2017-02, Vol.91 (2), p.284-293

2017

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Caspase 8 activation independent of Fas (CD95/APO-1) signaling may mediate killing of B-chronic lymphocytic leukemia cells by cytotoxic drugs or γ radiation

Blood, 2001-11, Vol.98 (9), p.2800-2807

2001

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Actions of the selective protein kinase C inhibitor PKC412 on B-chronic lymphocytic leukemia cells in vitro

Haematologica (Roma), 2002-02, Vol.87 (2), p.167

2002

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Cytotoxic drugs enhance the ex vivo sensitivity of malignant cells from a subset of acute myeloid leukaemia patients to apoptosis induction by tumour necrosis factor receptor‐related apoptosis‐inducing ligand

British journal of haematology, 2003-06, Vol.121 (5), p.713-720

2003

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Okadaic acid-induced apoptosis of HL60 leukemia cells is preceded by destabilization of bcl-2 mRNA and downregulation of bcl-2 protein

FEBS letters, 1998-09, Vol.435 (2), p.195-198

1998

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Haemorheology in Gaucher disease

European journal of haematology, 2005-09, Vol.75 (3), p.252-258

2005

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Autologous plasma activates Akt/protein kinase B and enhances basal survival and resistance to DNA damage‐induced apoptosis in B‐chronic lymphocytic leukaemia cells

British journal of haematology, 2001-09, Vol.114 (3), p.608-615

2001

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Assessment of plasma lyso-Gb 3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease

Genetics in medicine, 2021-01, Vol.23 (1), p.192

2021

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Prevalence of Anderson–Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson–Fabry Disease Survey

Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease

Generation of osteoclasts from type 1 Gaucher patients and correlation with clinical and genetic features of disease

Selective apoptotic killing of malignant hemopoietic cells by antibody-targeted delivery of an amphipathic peptide

Albumin activates the AKT signaling pathway and protects B-chronic lymphocytic leukemia cells from chlorambucil- and radiation-induced apoptosis

Prevalence and Clinical Significance of Cardiac Arrhythmia in Anderson-Fabry Disease

An unusual case of transient dermatological reaction to bortezomib in AL amyloidosis

The utility of the FIPI score in predicting long-term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy with agalsidase alfa

Glucosylceramide synthase inhibitors sensitise CLL cells to cytotoxic agents without reversing P-gp functional activity

Difficulties and barriers in diagnosing Fabry disease: what can be learnt from the literature?

A validated disease severity scoring system for Fabry disease

Rituximab in the treatment of refractory autoimmune cytopenias in adults

Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T)

Clinical effects and P-glycoprotein inhibition in patients with acute myeloid leukemia treated with zosuquidar trihydrochloride, daunorubicin and cytarabine

Treatment of lysosomal storage disorders

Gaucher Disease: Outcome following Total Hip Replacements and Effect of Enzyme Replacement Therapy in a Cohort of Uk Patients

Geldanamycin and herbimycin A induce apoptotic killing of B chronic lymphocytic leukemia cells and augment the cells' sensitivity to cytotoxic drugs

Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

Caspase 8 activation independent of Fas (CD95/APO-1) signaling may mediate killing of B-chronic lymphocytic leukemia cells by cytotoxic drugs or γ radiation

Actions of the selective protein kinase C inhibitor PKC412 on B-chronic lymphocytic leukemia cells in vitro

Cytotoxic drugs enhance the ex vivo sensitivity of malignant cells from a subset of acute myeloid leukaemia patients to apoptosis induction by tumour necrosis factor receptor‐related apoptosis‐inducing ligand

Okadaic acid-induced apoptosis of HL60 leukemia cells is preceded by destabilization of bcl-2 mRNA and downregulation of bcl-2 protein

Haemorheology in Gaucher disease

Autologous plasma activates Akt/protein kinase B and enhances basal survival and resistance to DNA damage‐induced apoptosis in B‐chronic lymphocytic leukaemia cells

Assessment of plasma lyso-Gb 3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease

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