Evolution of renal pathology in Fabry disease
Proteinuria and its consequences in renal disease
Effects of enzyme replacement therapy with agalsidase alfa on glomerular filtration rate in patients with Fabry disease
Gaucher and Fabry diseases
Hearing improvement in patients with Fabry disease treated with agalsidase alfa
Inner ear function in children with Fabry disease
Auditory and vestibular findings in Fabry disease
Head-impulse testing in Fabry disease – vestibular function in male and female patients
Sequelae of storage in Fabry disease – pathology and comparison with other lysosomal storage diseases
Are animal models useful for understanding the pathophysiology of lysosomal storage disease?
Differential trafficking of the Niemann–Pick C1 and 2 proteins highlights distinct roles in late endocytic lipid trafficking
Metachromatic leukodystrophy
Understanding and circumventing the blood–brain barrier
Severe lymphatic microangiopathy in Fabry disease
Doppler ultrasound examination of patients affected by Fabry disease
Effect of enzyme replacement therapy on intima–media thickness and abnormal flow-mediated vasodilation in Fabry disease
Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease
Improvement of left ventricular diastolic function in patients with Fabry disease after enzyme replacement therapy
Blood rheology and early stages of atherosclerosis in Fabry disease
Thromboembolic risk factors in Fabry disease
The incidence of concealed myocardial storage disease detected by endomyocardial catheter biopsy in patients with hypertrophic non-obstructive cardiomyopathy
Prevalence of Fabry disease among patients with left ventricular hypertrophy
Dilation of the ascending aorta in Fabry disease
Fabry disease
Fabry disease
Quality of life in females with Fabry disease
Fabry disease in childhood
Initial experience with enzyme replacement therapy in children and adolescents with Fabry disease
Pharmacokinetics of agalsidase alfa (Replagal™) in paediatric patients with Fabry disease
Females in the Fabry Outcome Survey (FOS)
Pedigree analysis in Fabry disease
Splice-site mutations of the α-galactosidase A gene in Fabry disease
Mutation spectrum of the gene for α-galactosidase A in Fabry disease
Analysis of the gene for α-galactosidase A in Fabry disease
A Fabry disease homozygote in the Nova Scotia kindred with a classic hemizygote phenotype
Quantitation of globotriaosylceramide in plasma and urine by mass spectrometry
Relief of gastrointestinal symptoms by enzyme replacement therapy in patients with Fabry disease
Gastrointestinal symptoms in patients with Fabry disease and their response to pancreatin supplements
Renal variant of Fabry disease?
Enzyme replacement therapy in Fabry disease
Evaluation of multi-organ involvement in Fabry disease
Brain magnetic resonance imaging in Fabry disease
CNS involvement in Fabry disease
Fabry disease small fibre neuropathy improves after enzyme replacement therapy
Ocular manifestations of Fabry disease
Pulmonary and Activation-Regulated Chemokine (PARC) – a serum chemokine biomarker of Gaucher disease activity
Serum and urinary lysozyme levels in patients with Fabry disease and Gaucher disease
Biochemical characterization of isoforms of tartrate-resistant acid phosphate (TRAP)
Pitfalls in enzyme replacement therapy for lysosomal storage disorders
Case report
Rapid verification of abnormal urinary oligosaccharides by fast atom bombardment mass spectrometry
Lysosomal storage disorders
Family with prosaposin deficiency and a novel mutation of the prosaposin gene
Fucosidosis in Tunisia
Positive selection with CliniMACS using bone marrow as a stem cell source for T- and B-cell depleted haematopoietic stem cell transplantation in children with inherited metabolic storage diseases
Therapeutic correction of a twitcher mouse model of Krabbe disease
Clinical and laboratory study of 26 Brazilian cases of mucopolysaccharidoses
Molecular analysis of Brazilian patients with mucopolysaccharidosis
Phenotypic variability in mucopolysaccharidosis type II (Hunter syndrome)
Clinical and biochemical studies in carriers of mucopolysaccharidosis type II (Hunter syndrome) – preliminary results
A mild phenotype of Morquio syndrome
Transport, enzymatic activity and stability of mutant sulphamidases in patients with Sanfilippo A syndrome
A widening spectrum of neurological involvement in patients with acid sphingomyelinase deficiency
Fetal Niemann–Pick disease types C1 and C2
Prenatal diagnosis in Pompe disease
Pycnodysostosis in a brother and sister – a case report