Foreword
Commentary
Fabry disease and the heart
The right ventricle in Fabry disease
Measurement of renal function in patients with Fabry disease
Natural history of the cerebrovascular complications of Fabry disease
Vascular complications of Fabry disease
Commentary
Biomarkers in lysosomal storage diseases
Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases
Clinical evaluation of biomarkers in Gaucher disease
Is globotriaosylceramide a useful biomarker in Fabry disease?
Commentary
Enzyme replacement therapy in mucopolysaccharidosis type I
Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux–Lamy syndrome)
Substrate reduction therapy for lysosomal storage diseases
Commentary
What can cell biology tell us about heterogeneity in lysosomal storage diseases?
Genotype and phenotype in Fabry disease
William Anderson (1842–1900), the British identifier of Fabry disease – a diverse and interesting man
Angiokeratoma corporis diffusum in Fabry disease
Fabry disease
Abnormal distribution of cell surface receptors in glycosphingolipid storage disorders
Enzyme replacement trials in Fabry mice and cultured human Fabry fibroblasts with recombinant α-galactosidase produced in yeast
Differentiation of Fabry disease, hypertrophic cardiomyopathy, hypertensive heart disease and amyloidosis using symptoms, electrocardiography and echocardiography
Cardiovascular magnetic resonance viability imaging in Fabry disease – the Swiss experience (preliminary results)
Assessment of biventricular function in Fabry disease with cardiovascular magnetic resonance imaging
The natural history of cardiac systolic function in Fabry disease
The effect of enzyme replacement therapy on coronary microvascular function in males with Fabry disease cardiomyopathy
The prevalence and clinical implications of arrhythmia in Fabry disease
Valvular heart disease in patients with Fabry disease
Prevalence of abnormalities of the thoracic aorta in patients with Fabry disease
Characteristics of hemizygous male patients with Fabry disease from Argentina
Fabry disease – from diagnosis to treatment
Clinical manifestations of female heterozygotes with Fabry disease in Japan
Characteristics of heterozygous female patients with Fabry disease from Argentina
Spirometric abnormalities in patients with Fabry disease and effect of enzyme replacement therapy
Bone density in a cohort of Australian patients with Fabry disease
Capillaroscopy in Fabry disease
Thrombophilic profile of patients with Fabry disease in Argentina
Correlation between interleukin-6 promoter gene polymorphism and stroke in patients with Fabry disease
Prevalence of genetic cardiovascular disease risk factors in female patients with Fabry disease
Pharmacokinetics of agalsidase alfa in patients with Fabry disease with end-stage renal failure
Agalsidase alfa treatment in patients with Fabry disease following renal transplantation
Fabry disease in patients on dialysis
Fabry parapelvic kidney cysts
Characteristic ultrasonographic findings in the kidneys of patients with Fabry disease
Diabetes cannot be used as a paradigm for Fabry renal disease
The neurological system in Australian patients with Fabry disease
Quantitative sensory testing in an Australian cohort of patients with Fabry disease
Intracranial magnetic resonance imaging in an Australian cohort of patients with Fabry disease
Diffusion tensor imaging in patients with Fabry disease
Psychiatric symptoms and quality of life in patients with Fabry disease
Auditory and vestibular function in Fabry disease
Audiological assessment of a cohort of Australian patients with Fabry disease
Cerebral vasoreactivity in two patients with Fabry disease
The significance of lymphoedema in Fabry disease
Muscular–skeletal manifestations of Fabry disease in FOS – the Fabry Outcome Survey
The patient's perspective of pain in Fabry disease
Pain in men and women with Fabry disease
The German Patient Support Group for Fabry disease
Pharmacokinetics of agalsidase alfa in paediatric patients with Fabry disease
Early onset of symptoms and early therapy response in a male patient with Fabry disease
Treatment with agalsidase alfa improves daily activity levels in patients with Fabry disease
Natural course of Fabry disease and short-term response to enzyme replacement therapy
Fabry disease
Agalsidase beta improves cerebral autoregulation in patients with Fabry disease
Infusion pass
Weekly infusions of agalsidase alfa in patients with Fabry disease
Does the Mainz Severity Score Index predict the requirement for enzyme replacement therapy in females with Fabry disease?
Ocular findings in mucopolysaccharidosis type I during enzyme replacement therapy
A prospective observational evaluation of 20 Brazilian patients with mucopolysaccharidosis type II (Hunter syndrome) in a medical genetics service
Musculo-skeletal abnormalities in 21 Brazilian patients with mucopolysaccharidosis type II (Hunter syndrome) followed at the Hospital de Clinicas de Porto Alegre, Brazil
Phenotypic variability and disease progression in mucopolysaccharidosis type II (Hunter syndrome)
Molecular analysis of N-acetylglucosamine-1-phosphotransferase in fibroblasts of patients with mucolipidosis type III
Characterization of mutant sulphamidase S298P, identified in patients with mild clinical phenotypes of mucopolysaccharidosis type IIIA
Prenatal diagnosis in Pompe disease
Morphometric comparison of the development of normal and mutant (twitcher) murine oligodendrocytes in tissue culture
Neonatal manifestation of multiple sulphatase deficiency
Cholesterol affects the mass and subcellular localization of glucosylceramidase in Niemann–Pick type C fibroblasts
The hypergammaglobulinaemia of Gaucher disease is not reversed by enzyme replacement therapy
Galactosialidosis