"Long-term Outcomes" search results...

A newly identified c.965C>T (p.Ala322Val) missense mutation in the GALNS gene has been associated with the severe form of Morquio syndrome (MPS IVA); the diagnosis was confirmed in a 3-year-old patient with skeletal abnormalities through whole exome sequencing, and early enzyme replacement therapy has been recommended to slow disease progression.

MPS

Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study

2021-10-22

The aim of this study was to investigate the decline of activities of daily living with symptomatic progression in patients with mucopolysaccharidosis type II (MPS II) and investigate the associated factors.

POMPE

STIG study: Real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa

2021-07-26

The goal of this study is to determine alglucosidase alfa's long-term effectiveness and safety in the real world.

GAUCHER

Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment

2021-02-01

This study reports hematologic, visceral, bone pain, bone crisis, height, weight, and BMI outcomes in patients treated for 20 (±3) years with subset analyses based on pre-treatment severity, genotype, and age at treatment initiation. As a result, imiglucerase is found as an effective, long-term treatment for GD1. Improvements seen during early treatment years are sustained by continuing treatment for 20 years, except for bone pain in non-splenectomized patients.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

MPS

A Novel Missense Mutation (c.965C>T, p.Ala322Val) in the GALNS Gene: A Severe MPS IVA Case

MPS

Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study

POMPE

STIG study: Real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa

GAUCHER

Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment

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