EIP Resources

Resources

Gene therapy for lysosomal storage disorders: recent advances for MLD and MPS I

Institute of Pediatrics

Smell and taste disorders in children with Mucopolysaccharidosis (MPS)

Institute of Pediatrics

Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights

Institute of Pediatrics

The new frame for Mucopolysaccharidoses

Institute of Pediatrics

Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

Institute of Pediatrics

Open issues in Mucopolysaccharidosis type I-Hurler

Institute of Pediatrics

Mucopolysaccharidosis Type I

Institute of Pediatrics

ENT and mucopolysaccharidoses

Institute of Pediatrics

Why should rheumatologists be aware of the mucopolysaccharidoses?

Institute of Pediatrics

Characterization of Hip Morphology in Children With Mucopolysaccharidosis Types I and II

Institute of Pediatrics

Musculoskeletal manifestations of lysosomal storage disorders

Institute of Pediatrics

Orthopaedic challenges for mucopolysaccharidoses

Institute of Pediatrics

Growth patterns in children with mucopolysaccharidosis I and II

Institute of Pediatrics

Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

Institute of Pediatrics

Mucopolysaccharidoses: early diagnostic signs in infants and children

Institute of Pediatrics

Clinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses

Institute of Pediatrics

Review: Growth Impairment in Mucopolysaccharidoses

Institute of Pediatrics

Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses

Institute of Pediatrics

Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study

Institute of Pediatrics

Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I

Institute of Pediatrics

Otorhinolaryngological manifestations in 61 patients with mucopolysaccharidosis

Institute of Pediatrics

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries

Institute of Pediatrics

Gene therapy for metachromatic leukodystrophy

Institute of Pediatrics

Gene therapy for lysosomal storage disorders: recent advances for MLD and MPS I

Institute of Pediatrics

Leukodystrophies: a proposed classification system

Institute of Pediatrics

Peripheral neuropathy in MLD

Institute of Pediatrics

Metachromatic leukodystrophy and transplantation

Institute of Pediatrics

Leukodystrophies in Children: Diagnosis, Care, and Treatment

Institute of Pediatrics

Metachromatic Leukodystrophy: Diagnosis, Modelling, and Treatment Approaches

Institute of Pediatrics

Acute-onset paralytic strabismus in toddlers as an early sign of late-infantile MLD

Institute of Pediatrics

Newborn screening in MLD – European consensus-based recommendations

Institute of Pediatrics

Clinical effectiveness and safety for treatment options of MLD in children

Institute of Pediatrics

White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis

Institute of Pediatrics

Recognition of alpha-mannosidosis in paediatric and adult patients

Institute of Pediatrics

α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an ‘MPS-like’ phenotype

Institute of Pediatrics

Cost-effectiveness of velmanase alfa vs. bone marrow transplantation

Institute of Pediatrics

Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis

Institute of Pediatrics

Long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment

Institute of Pediatrics

Relationship between MAN2B1 genotype, antidrug antibody detection, and long-term velmanase alfa treatment outcomes

Institute of Pediatrics

Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

Institute of Pediatrics

Cost-effectiveness of velmanase alfa vs. bone marrow transplantation in patients with moderate alpha-mannosidosis

Institute of Pediatrics

Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis

Institute of Pediatrics

Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis

Institute of Pediatrics

Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis: Long-Term Data of Enzyme Replacement Therapy With Velmanase Alfa

Institute of Pediatrics

Molecular basis of neurocognitive dysfunction and psychosis in Alpha-Mannosidosis

Institute of Pediatrics

Enzyme replacement therapy with velmanase alfa: Novel global treatment response model and outcomes in patients with alpha-mannosidosis

Institute of Pediatrics

Gene therapy for lysosomal storage disorders: recent advances for MLD and MPS I

Institute of Pediatrics

Smell and taste disorders in children with Mucopolysaccharidosis (MPS)

Institute of Pediatrics

Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights

Institute of Pediatrics

The new frame for Mucopolysaccharidoses

Institute of Pediatrics

Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

Institute of Pediatrics

Open issues in Mucopolysaccharidosis type I-Hurler

Institute of Pediatrics

Mucopolysaccharidosis Type I

Institute of Pediatrics

ENT and mucopolysaccharidoses

Institute of Pediatrics

Why should rheumatologists be aware of the mucopolysaccharidoses?

Institute of Pediatrics

Characterization of Hip Morphology in Children With Mucopolysaccharidosis Types I and II

Institute of Pediatrics

Musculoskeletal manifestations of lysosomal storage disorders

Institute of Pediatrics

Orthopaedic challenges for mucopolysaccharidoses

Institute of Pediatrics

Growth patterns in children with mucopolysaccharidosis I and II

Institute of Pediatrics

Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

Institute of Pediatrics

Mucopolysaccharidoses: early diagnostic signs in infants and children

Institute of Pediatrics

Clinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses

Institute of Pediatrics

Review: Growth Impairment in Mucopolysaccharidoses

Institute of Pediatrics

Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses

Institute of Pediatrics

Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study

Institute of Pediatrics

Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I

Institute of Pediatrics

Otorhinolaryngological manifestations in 61 patients with mucopolysaccharidosis

Institute of Pediatrics

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries

Institute of Pediatrics