Rare Diseases

Current bibliography for experts

"Gene Variant" search results...

FABRY

Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene

2022-12-01

p.Pro380Leu novel pathogenic variant of GLA gene should be considered as pathogenic and associated with a late-onset variant of Fabry disease with a predominant neurological phenotype.

CSID

Severe pathogenic variants of intestinal sucrase-isomaltase interact avidly with the wild type enzyme and negatively impact its function and trafficking

2022-11-01

This study provides novel insights into the potential role of heterozygosity in the pathophysiology of congenital sucrase-isomaltase deficiency and irritable bowel syndrome.

MPS

Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants

2022-09-01

This study presents the status of variant alleles and biochemistry results found in infants suspected of having MPS I, II, IVA, and VI.

FABRY

Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly)

2022-05-01

Precise clinical evaluation in individuals diagnosed with genetic variations of unknown significance should be performed to distinguish common symptoms broadly prevalent in the general population from those secondary to Fabry disease.

FABRY

Multidisciplinary Management of Fabry Disease: Current Perspectives

2022-03-10

This review aims to describe the clinical features and the current perspectives in the multidisciplinary management of Fabry disease (FD) patients.

CSID

Two Novel Mutations in the SI Gene Associated with Congenital Sucrase-Isomaltase Deficiency: A Case Report in China

2021-12-09

This article reports a case of novel variants in the SI gene that caused CSID. This report provides valuable information for the clinical field, especially in China.

MPS

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants

2021-08-13

Mutation updates are essential for the correct molecular diagnoses, genetic counseling, prenatal and preimplantation diagnosis, and disease management.

FABRY

Detailed Phenotype of GLA Variants

2021-08-12

The findings of this study underline the importance of detailed phenotype description and data sharing in the correct identification of pathogenicity of gene variants detected by high-risk-population screening programs.

FABRY

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

2021-06-27

This study is the largest reported to date in Europe and presents data from long-term NBS for Fabry disease (FD) that reveals the current incidence of FD in northeastern Italy

CSID

Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome

2020-12-22

In genetic screening of IBS patients, it is discovered that rare sucrase-isomaltase (SI) gene variants are associated with IBS. The findings of this article emphasize the importance of screening for SI mutations in IBS patients and considering enzyme replacement therapy as an appropriate treatment option, similar to CSID.

CLN2

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

2019-11-01

Effective CLN2 disease management requires early diagnosis. This article updates on the spectrum of TPP1 variants associated with CLN2 disease.

CSID

Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency

2019-09-25

In this study, heterozygote mutation carriers in CSID were proposed as a new entity, possibly presenting with milder symptoms. It is suggested that the heterozygote mutants may affect the disease development and treatment.

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