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Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
Mucopolysaccharidosis type I-H (MPS I-H) is a rare lysosomal storage disorder caused by α-L-Iduronidase deficiency. Early haematopoietic stem cell...
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Bedeutung lysosomaler Speicherkrankheiten in der Rheumatologie
Lysosomal storage diseases are a group of rare hereditary metabolic diseases. Due to a deficiency of lysosomal enzymes, complex substrates accumulate...
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Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond
BackgroundThe Italian Medicines Agency (AIFA) demands precise information on benefit/risk profile of home-based enzyme replacement therapy (ERT) for...
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Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses
Mucopolysaccharidoses (MPSs) are caused by a deficiency in the enzymes needed to degrade glycosaminoglycans (GAGs) in the lysosome. The storage of...
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Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency
BackgroundGD and ASMD are lysosomal storage disorders that enter into differential diagnosis due to the possible overlap in their clinical...
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Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys
BackgroundMucopolysaccharidoses (MPS) are a group of inherited metabolic diseases characterized by chronic, progressive multi-system manifestations...
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Dry synovitis, a rare entity distinct from juvenile idiopathic arthritis
BackgroundDry synovitis (DS) is a rare entity as only a few cases have been reported to date. We describe the clinical features, radiological...
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Multimodal imaging of Hurler syndrome-related keratopathy treated with deep anterior lamellar keratoplasty
BackgroundHurler syndrome-associated keratopathy is an exceedingly rare corneal disorder that requires corneal transplantation in advanced stages....
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Classifying vertebral artery anatomy abnormality in children with skeletal dysplasia
PurposeSkeletal dysplasia (SKD) have predictably abnormal occipitocervical skeletal anatomy, but a similar understanding of their vertebral artery...
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Enzymtherapien in der Neurologie
As with many other rare diseases, the diagnosis of congenital metabolic disorders is much faster and easier with modern genetic testing methods. The...
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Molecular environment and atypical function: What do we know about enzymes associated with Mucopolysaccharidoses?
Mucopolysaccharidoses are a group of lysosomal storage disorders caused by deficiency of enzymes involved in glycosaminoglycans degradation....
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In search of causal pathways in diabetes: a study using proteomics and genoty** data from a cross-sectional study
Aims/hypothesisThe pathogenesis of type 2 diabetes is not fully understood. We investigated whether circulating levels of preselected proteins were...
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Technologies of gene editing and related clinical trials for the treatment of genetic and acquired diseases: a systematic review
BackgroundGene editing can produce irreversible permanent changes to the genetic material at predetermined sequences, avoiding random integration,...
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Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III
ObjectiveThe present study aims to provide orientation for clinicians and radiologists to recognize the most prevalent findings leading to diagnosis...
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Valvular heart disease and cardiomyopathy: reappraisal of their interplay
Cardiomyopathies and valvular heart diseases are typically considered distinct diagnostic categories with dedicated guidelines for their management....
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Novel approach to idursulfase and laronidase desensitization in type 2 and type 1 S mucopolysaccharidosis (MPS)
Background:Idursulfase and laronidase are drugs used to treat Hunter syndrome (mucopolysaccharidosis type 2) and Scheie syndrome...
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Mechanisms of Neutralizing Anti-drug Antibody Formation and Clinical Relevance on Therapeutic Efficacy of Enzyme Replacement Therapies in Fabry Disease
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A (AGAL/GLA) gene. The lysosomal...
