Rare Diseases

Current bibliography for experts

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FABRY

Identification of c.146G > A mutation in a Fabry patient and its correction by customized Cas9 base editors in vitro

2025-01-22

This study identifies a significant mutation (c.146G>A) in exon 1 of the GLA gene in a female Fabry disease patient. Bioinformatic predictions and biochemical analyses revealed that this variant significantly reduced the stability and activity of α-galactosidase A, confirming its pathogenicity. Using an adenine base-editing technique, the mutation was corrected in vitro. The study not only identified a novel variant but also demonstrated the potential of the CRISPR/Cas9 system.

GAUCHER DISEASE

Machine Learning-Driven Biomarker Discovery for Skeletal Complications in Type 1 Gaucher Disease Patients

2024-08-06

This study aims to identify protein biomarkers for the early detection of skeletal complications in patients with Type 1 Gaucher disease using machine learning. The research identified 18 potential biomarkers, emphasizing that some of these can be measured through blood tests. The goal is to develop new tools for clinical decision support systems using machine learning and systems biology techniques.

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.

XLSD

Pilot study of newborn screening for six lysosomal diseases in Brazil

2023-07-13

This study indicates that the use of enzyme assay as the first-tier test gives an acceptably low number of positive results that requires second/third tier testing.

FABRY

A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease

2023-06-10

This article reports a rare familial case of inherited cardiac Fabry disease (FD) associated with a novel double mutation in the GLA gene: W24R and N419D.

ASMD

Case report: The spectrum of SMPD1 pathogenic variants in Hungary

2023-06-06

This article reports the first description of all six diagnosed acid sphingomyelinase deficiency cases in Hungary.

MPS

Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study

2023-06-01

This study aimed to characterize the clinical characteristics and genotypes of the largest cohort of Chinese patients with mucopolysaccharidosis type II (MPS II).

SÜKRAZ-IZOMALTAZ EKSIKLIĞI

Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates

2023-01-01

This clinical study revealed that sucrase-isomaltase deficiency may have been underdiagnosed in patients with chronic diarrhea in Turkey.

POMPE

Newborn screening for Pompe disease in Italy: Long-term results and future challenges

2022-10-22

This study presents the results from 7 years of newborn screening (NBS) for Pompe disease (PD) and the management of infantile-onset (IOPD) and late-onset (LOPD) patients.

CTX

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report

2022-10-16

This study reports the clinical, biochemical, and molecular characterization of a 33-year-old female patient with cerebrotendinous xanthomatosis.

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.

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