"Disease Burden" search results...

ASMD

Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: Eleven years of observation

2021-10-27

This prospective, multi-center, multinational longitudinal study aimed to characterize the clinical features of chronic forms of ASMD and disease burden over time in children and adults.

MPS

Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series

2021-10-19

This case series shows the high disease burden of the mucopolysaccharidosis (MPS) VI population in Turkey and provides a unique insight into their clinical journey based on real-life clinical and event-based data collected before and after initiation of enzyme replacement therapy (ERT).

LIZOZOMAL DEPO HASTALIKLARI

The usage of enzyme replacement treatments, economic burden, and quality of life of patients with four lysosomal storage diseases in Shanghai, China

2021-08-01

The scope of drug reimbursement list and the reimbursement level should be further expanded and raised to help improve the living conditions of patients with LSDs.

FABRY

Precision Medicine in Fabry Disease

2021-06-22

In Fabry disease, precision medicine practices can enable physicians to predict more accurately which prevention and treatment strategy is best for which patient.

MPS

Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries

2021-05-25

This real-world study assessed the disease burden, management patterns and multidisciplinary clinical approaches for MPS-IVA and MPS-VI patients in Latin America. The disease burden for MPS-IVA/VI was high in Latin America, with consistent management, treatment and socio-demographic trends throughout the region.

MPS

Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement

2021-01-29

There are two types of the Mucopolysaccharidosis type I (MPS I) disease: severe form (Hurler syndrome) and attenuated form (Hurler-Scheie, Scheie). Current treatments can partially prevent, but not significantly improve, clinical manifestations, necessitating early diagnosis of disease and commencement of treatment.

POMPE

Quantitative whole-body magnetic resonance imaging in children with Pompe disease

2020-10-14

This article reports a measure of muscle fat infiltration in children with infantile and pediatric late-onset Pompe disease (IPD and LOPD, respectively) to better understand the extent of muscle involvement.

Rare Diseases

Current bibliography for experts