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The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders

Health technology assessment (Winchester, England), 2012, Vol.16 (39), p.1-543

2012

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Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry

Journal of inherited metabolic disease, 2007-04, Vol.30 (2), p.184-192

2007

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Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation

Nephrology, dialysis, transplantation, 2012-03, Vol.27 (3), p.1042-1049

2012

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Fabry disease: a review of current management strategies

QJM : An International Journal of Medicine, 2010-09, Vol.103 (9), p.641-659

2010

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Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

American journal of human genetics, 2004-07, Vol.75 (1), p.65-74

2004

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Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN)

Nephrology, dialysis, transplantation, 2010-07, Vol.25 (7), p.2168-2177

2010

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Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study

Journal of inherited metabolic disease, 2014-11, Vol.37 (6), p.945-952

2014

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A Phase 2 study of migalastat hydrochloride in females with Fabry disease: Selection of population, safety and pharmacodynamic effects

Molecular genetics and metabolism, 2013-05, Vol.109 (1), p.86-92

2013

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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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Proteinuria signals the risk of diseaseprogression as strongly in female as in male patients with fabry disease

Clinical therapeutics, 2007, Vol.29, p.S20-S20

Waldek, S

2007

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Agalsidase beta treatment of patientswith Fabry disease for 54 months reduces globotriaosylceramide accumulation in multiple cell types of the kidney

Clinical therapeutics, 2007, Vol.29, p.S29-S30

Waldek, S

2007

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Depression in adults with Fabry disease: A common and under-diagnosed problem

Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.943-951

2007

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

Journal of inherited metabolic disease, 2014-11, Vol.37 (6), p.953-960

2014

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Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease

Journal of inherited metabolic disease, 2005-01, Vol.28 (1), p.35-48

2005

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Prevalence of hypogonadism in male patients with renal failure

Postgraduate medical journal, 2006-10, Vol.82 (972), p.693-696

2006

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W1.3 Corneal confocal microscopy: a novel non-invasive means to diagnose neuropathy in patients with Fabry disease

Clinical neurophysiology, 2011, Vol.122, p.S7-S7

2011

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Epidemiology of renal dysfunction and patient outcome in atherosclerotic renal artery occlusion

Journal of the American Society of Nephrology, 2002, Vol.13 (1), p.149-157

2002

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Risk of morbidity from renovascular disease in elderly patients with congestive cardiac failure

The Lancet (British edition), 1998-07, Vol.352 (9121), p.13-16

1998

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P24—Prognostic Indicators of Renal Disease Progression: Natural History Data From the Fabry Registry

Clinical therapeutics, 2012-04, Vol.34 (4), p.e27-e27

2012

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Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry

Genetics in medicine, 2009-11, Vol.11 (11), p.790-796

2009

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Sustained, long-term renal stabilization after 54 months of agalsidase β therapy in patients with fabry disease

Journal of the American Society of Nephrology, 2007-05, Vol.18 (5), p.1547-1557

2007

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Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy

Nephrology, dialysis, transplantation, 2008-05, Vol.23 (5), p.1600-1607

2008

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Home-based infusion therapy for patients with Fabry disease

British journal of nursing (Mark Allen Publishing), 2008-05, Vol.17 (10), p.653-657

2008

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The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders

Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry

Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation

Fabry disease: a review of current management strategies

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN)

Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: Selection of population, safety and pharmacodynamic effects

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

Proteinuria signals the risk of diseaseprogression as strongly in female as in male patients with fabry disease

Agalsidase beta treatment of patientswith Fabry disease for 54 months reduces globotriaosylceramide accumulation in multiple cell types of the kidney

Depression in adults with Fabry disease: A common and under-diagnosed problem

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

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

Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease

Prevalence of hypogonadism in male patients with renal failure

W1.3 Corneal confocal microscopy: a novel non-invasive means to diagnose neuropathy in patients with Fabry disease

Epidemiology of renal dysfunction and patient outcome in atherosclerotic renal artery occlusion

Risk of morbidity from renovascular disease in elderly patients with congestive cardiac failure

P24—Prognostic Indicators of Renal Disease Progression: Natural History Data From the Fabry Registry

Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

Sustained, long-term renal stabilization after 54 months of agalsidase β therapy in patients with fabry disease

Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy

Home-based infusion therapy for patients with Fabry disease

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