Rare Diseases

Current bibliography for experts

"Enzyme Replacement Treatment" search results...

POMPE

Development of a kit for urine collection on filter paper as an alternative for Pompe disease screening and monitoring by LC-HRMS

2023-08-17

This study investigates a newly developed filter paper based-urine collection kit to facilitate specimen shipment, and liquid chromatography coupled with high-resolution mass spectrometry (LC-HRMS) analysis to determine Glc4 and creatinine in dried urine on filter paper.

POMPE

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

2023-08-04

This is the first study to analyze the genotype and phenotype of Malaysian infantile-onset Pompe disease (IOPD) patients, and has identified the c.1935C > A p.(D645E) as the most common mutation.

FABRY

An Overview of Molecular Mechanisms in Fabry Disease Biomolecules.

2022-10-12

This review provides an overview of the main features of FD, focusing on its molecular mechanism and the role of biomarkers.

MPS

Treatment of latent tuberculosis in a child with mucopolysaccharidosis type I receiving enzyme replacement therapy: A case report

2022-08-16

This case report demonstrates that tuberculosis and mucopolysaccharidosis type I S can be treated simultaneously without serious adverse effects.

FABRY

Late-onset Fabry disease: The cardiac sequela

2022-06-09

This is the first detailed description of a late-onset phenotype of Fabry disease (FD) with c.146 G>C GLA variant. In addition, this case serves as a potent reminder to pay meticulous attention to 'red flags' accompanying left ventricular hypertrophy (LVH)

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

MiRNA Let-7a and Let-7d Are Induced by Globotriaosylceramide via NF-kB Activation in Fabry Disease

2021-07-30

According to the findings of this study, Let-7a and Let-7d may be useful indicators for enzyme activity and inflammation in Fabry disease patients.

GAUCHER

Clinical Characteristics, Molecular Background, and Survival of Egyptian Patients With Gaucher Disease Over a 20-Year Follow-up

2021-07-23

Early age at diagnosis and treatment with ERT over 20 years revealed significant improvements in disease manifestations, with an overall survival of 73.3%.

FABRY

Application of Genetic Testing in Unveiling the Diagnosis of Fabry Disease in a Patient with Hypertrophic Cardiomyopathy

2021-04-01

In this paper, the case of a 40-year-old male FD patient with left ventricular hypertrophy is described.

POMPE

Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

2021-03-31

This study emphasizes the multisystem nature of late-onset type of Pompe disease (LOPD) and highlights the polygenic nature of the complex phenotype disclosed in these patients.

POMPE

Multisystem late onset Pompe disease (LOPD): An update on clinical aspects

2019-07-01

Although Pompe disease was once thought to be predominantly a muscle disorder, it is now obvious that there is involvement of multiple other organs. Great efforts have been made for clarifying the clinical aspects of Pompe disease, raising awareness of the challenges that LOPD patients face, and improving their quality of life.

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