Rare Diseases

Current bibliography for experts

"Asm" search results...

FABRY

Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and MetaAnalysis

2022-01-01

This meta-analysis is performed according to previous studies to review the benefit of ERT for LVH improvement in Fabry patients. Based on the currently available data, this meta-analysis showed that there are beneficial effects on LVH improvement with ERT in Fabry disease patients.

POMPE

To detect potential pathways and target genes in infantile Pompe patients using computational analysis Bioimpacts

2022-01-01

In this study, the determination of key genes involved in the response to ERT for Pompe disease and potential molecular mechanisms were investigated.

FABRY

Growth Differentiation Factor-15 and Syndecan-1 Are Potential Biomarkers of Cardiac and Renal Involvement in Classical Fabry Disease under Enzyme Replacement Therapy

2022-01-01

Growth Differentiation Factor-15 (GDF-15) and Syndecan-1 were associated with parameters of cardiac and renal involvement in classic Fabry disease patients on enzyme replacement therapy (ERT). Their potential association with residual risk and disease outcomes should be investigated.

MPS

The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy

2021-11-01

The findings of this study indicate the need for novel treatment methods that target the skeletal system in affected patients.

GAUCHER

Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3

2021-11-01

This single center experience is the first comprehensive study from Turkey not only reporting clinical and genetic characteristics of patients with Gaucher disease (GD) but also providing information on the outcomes of enzyme replacement therapy (ERT) in two different sub-types of GD.

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

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.

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).

CSID

The glucose-regulated protein GRP94 interacts avidly in the endoplasmic reticulum with sucrase-isomaltase isoforms that are associated with congenital sucraseisomaltase deficiency

2021-09-01

In this study, an interaction between glucose-regulated protein GRP94 and sucrase-isomaltase (SI) was demonstrated. The interaction of GRP94 with SI and regulation of its folding, suggests that GRP94 may play a role in maintaining intestinal homeostasis.

ASMD

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

2021-08-23

In this study in children with chronic ASMD, olipudase alfa was generally well-tolerated with significant, comprehensive improvements in disease pathology across a range of clinically relevant endpoints.

ASMD

Acid Sphingomyelinase, a Lysosomal and Secretory Phospholipase C, Is Key for Cellular Phospholipid Catabolism

2021-08-20

In this article, the biochemical characteristics of acid sphingomyelinase (ASM), their potential effect on cellular lipid turnover, as well as a potential impact on physiological processes are discussed.

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.

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